Company's news

01.02.2018

Participation in ESHG2018

From 16th till 19th of June Parseq Lab's team members Natalia Malashikhina and Alexander Pavlov will be attending the 52nd European Human Genetics Conference held in Milan, Italy.

We are happy to prepare to this event because such events help us to stay up to date and to deliver the news about our products and services. Due to the huge variety of conference topics that will cover all aspects of human genetics, we are awaiting to meet interest to our products from our potential clients.

Welcome to learn more about our products at our website, the updates and new products releases are coming soon.

Meet us at booth 582. Drop a line to nmalashikhina@parseq.pro or info@parseq.pro to get in touch before the event and to book a meeting.

30.10.2017

Participation in all-Russian scientific-practical conference "New technologies
of diagnostics of hereditary diseases"

On 27th of October Parseq Lab participated in the round table named "The Interpretation of data obtained by next-generation sequencing", which was held within the framework of the conference "New technologies of diagnostics of hereditary diseases" (Moscow, October 27th and 28th, 2017).

The meeting was devoted to the discussion of the first results of the work
in accordance with the Consensus Paper for genome data interpretation obtained from next-generation sequencing method within newborn screening program. This Consensus Paper was adopted in December 2016 at Cystic Fibrosis Consensus. It's entry is due to the increased use of sequencing technologies and the urgent need to standardize approaches to research, analysis and interpretation of data. This is the first document in Russia regulating the procedure of interpreting the results and determining the necessary qualitative and quantitative characteristics of the sequencing results.

In the recommended scheme of the screening program are included our kits for the diagnostics of hereditary diseases — VariFind™ Neoscreen assay.

At the meeting there were also discussed the prospects of expanding the screening programme via inclusion diseases associated with hereditary metabolic disorders —
we are developing a panel for screening of such diseases: the panel will combine the methods of genetic diagnostics and tandem mass spectrometry.

06.08.2017

International conference and workshop Bioinformatics: from algorithms
to applications (BIATA-2017)

The Parseq Lab team participated in the international scientific conference "Bioinformatics: from algorithms to applications" (BIATA-2017), which took place in St. Petersburg from 1st till 5th of August.

First three days of the conference was dedicated to presentations from scientists and discussions of the latest developments in bioinformatics. The focus was on SPAdes — the leading application in the field of bacterial genomes assembly — which was developed by scientists of St. Petersburg state University. On the 4th and 5th of August master-classes was held where participants could practice data analysis.
The head of Parseq Lab's bioinformatics department, Anton Bragin, held a presentation about the new product: genome browser Concentrate — the new tool based on a new approach to the visualization of genomic data.
To try the browser and to read more, please follow the link on the GitHub wiki.

This conference was the first, but we hope that it will be held annually.

21.07.2017

Parseq Lab at ISMB/ECCB 2017

Parseq Lab team of developers takes part at the 25th conference on Intelligent Systems for Molecular Biology (ISMB) and the 16th European conference on Computational Biology (ECCB) on 21—25 July, Prague, at Prague congress centre.

ISMB/ECCB is held for scientists from computer science, molecular biology, mathematics, statistics and related fields and devoted to issues of development and application of advanced computational methods for biological problems. Strong scientific and technical program that showcases the best international developments in bioinformatics and computational biology will level us up to provide you better products and services.

On Monday during a poster-session our team will present a new open-source genome browser Concentrate.
The browser bases on the new approach of graphical genome data visualization, it has strong features such as rich filtering capabilities and graphical information, that distinguishes it from existing genomiс browsers.

See you on 21—25 July.

Venue: Prague congress centre.

01.06.2017

Genetic diagnostics of autoimmune diseases

Diagnostics of autoimmune diseases using VariFind™ AIP assay

Parseq Lab has completed the new product — VariFind™ AIP assay — designed for the genetic diagnostics of hereditary autoimmune diseases, such as, for example, family Mediterranean fever. Test system was verified on the samples of the 1000 genomes project (1000 Genomes) and NIST whole genome standard sample (National Institute of Standards and Technology, USA).

Diagnostic panel includes more than 1000 clinically relevant variants in 12 genes analyzed:

· FMF
· TNFRSF1A
· NLRP3
· MVK
· NOD2
· IL1RN
· IL10RA
· IL10RB
· IL10
· PSTPIP1
· LPIN2
· PLCG2

The test system includes not only reagents for targeted DNA enrichment and libraries preparation, but also the VariFind™ Software, which can be used to analyze high-throughput sequencing data and to annotate the detected genetic variants using information from its own databases and external sources, including specialized databases.

Clinically relevant variants can be included in a custom PDF-report.

Read more about other available test systems and how to place an order.

02.05.2017

VariFind™ HID project news

On April 19, during the "Molecular Diagnostics 2017" conference (Moscow) Vasiliy Pekhov (the employee of the department of medical and biological research of the organization of the forensic-criminal activity of the Main Criminalistics Department of the Investigative Committee of the Russian Federation) presented the results of molecular genetic expertise conducted by means of the VariFind™ HID solution developed by Parseq Lab.

The VariFind™ HID is a complex solution for human identification based on high-performance sequencing technology designed to resolve cases where currently used capillary electrophoresis (CE) methods are not sufficient to obtain reliable results. This solution fits for analysis of low quality DNA samples, DNA mixtures from two or more contributors, stain samples in cases without any known suspects.

Vasily Pekhov reported about several examinations conducted by the Investigative Committee, where the VariFind™ HID solution was used to obtain additional information about samples.

In two examinations MPS technology was applied to deal with two-contributors DNA mixtures where minor contributor's genotype was especially interesting for investigation, but the minor component ratio was below the level acceptable for CE analysis.

Another example given in the report was the use of the VariFind™ HID solution to identify bone remains. In this case strongly degraded DNA was isolated from bone samples and then sequenced. Genetic profile obtained was sufficient for comparison with known relatives.

In addition, the solution was used in molecular-genetic expertise for phenotype prediction. Most probable suspect's eye and hair colors were estimated based on crime scene stain DNA samples.

Based on the completed work, it was concluded that the high-throughput sequencing method allows obtaining additional information in cases that cannot be resolved by traditional approaches and extends the capabilities of forensic DNA expertise.

The VariFind™ HID solution includes reagent kits to examine a large number of specially selected loci, an infrastructure for data storage and management — Genome Server™ — and software for analysis of sequencing results, forensic hypothesis testing, and subsequent report generation. The solution consists of three modules that are designed for human identification, human ancestry estimation, and phenotype prediction.

Read more on the VariFind™ HID solution page.

01.03.2017

Renewed VariFind™ Neoscreen assay

Renewed VariFind™ Neoscreen assay is available for purchase — the assay for detection of hereditary diseases (cystic fibrosis, galactosemia and phenylketonuria) is redesigned for the Ion Torrent platform and includes everything required for the analysis: reagents for targeted DNA enrichment, reagents for libraries preparation, reagents for barcoding, and control DNA sample — so the full list of features, that assay for Illumina platform has.

Since sequencing is a multistage process, which requires many components and each component usually had to be ordered separately, taking into account logistics, controlling date of reagents expiry and interacting with different suppliers — VariFind™ Neoscreen assay relieves from these issues and gives easy handling, unified protocols and clear algorithm of actions.

The solution includes reagents, a DNA control sample, and an application, that processes the data, finds and annotates genetic variants in targeted regions. The app works with the built-in annotated database that is supervised by our expert and is regularly updated. Variants of interest can be included in the PDF-report that you can save or print.

VariFind™ Neoscreen assay ensures easy work with the wet lab due to clear instructions and protocols; fast data analysis due to the user-friendly application interface; quick solution of problems — in this case, client support will help.

More about the assay, mutations included and features on product page.

17.01.2017

Parseq Lab and St. Petersburg State University will find the genetic causes of diabetes and obesity

Parseq Lab will take part in St. Petersburg State University's project, aimed at the search for genetic causes of some forms of diabetes and endocrine disorders leading to obesity. As a result there will be proposed a method to detect genetic disorders, associated with these diseases, and a method of risk assessment of their development.

The project is designed for two years and will begin with groups formation of the patients, suffering from hereditary diseases of the endocrine system, medical anamnesis collection and samples collection. A control group of healthy people will be formed as well. The biological samples will be stored in the "Biobank" cryostorage of St. Petersburg State University resource center.

The samples will be analyzed by high-throughput sequencing method and then bioinformatics will process the data. This will allow to study the genetic variations in samples.

A database of diseases genetic markers will be based on the research results. Scientists will select markers that are the most informative and valid for the diagnosis of pathological states or risk assessment of their development.

The project employs molecular biologists, medical geneticists, bioinformatics and software developers.

26.10.2016

Publication in the BMC Bioinformatics

We are happy to announce that on 22nd October our article "A statistical approach to detection of copy number variations in PCR-enriched targeted sequencing data" was published in the BMC Bioinformatics.

The article describes a new method of determining the copy number variations (CNV), which allows to search for deletions and insertions in the targeted sequencing data obtained using multiplex PCR-based library preparation techniques. The article is written by German Demidov (Centre for Genomic Regulation (CRG), formerly Parseq Lab), Tamara Simakova, Julia Vnuchkova and Anton Bragin (Parseq Lab). First results were presented at the Moscow international conference on computational molecular biology (MCCMB2015) in 2015.

Multiplex PCR is a commonly used technique for sample preparation in carrying out targeted high-throughput sequencing (Massively parallel sequencing, MPS) that are widely used in biomedical research and clinical diagnostics as a quick, accurate and inexpensive comparing to whole genome sequencing method of genetic variants (e.g. single nucleotide polymorphisms – SNP) search. However, the detection of large-scale changes in the genome, such as, for example, deletions of several hundred or thousand nucleotides, or copy number variations of sequences (CNV) is a difficult task for targeted sequencing due to the complex mechanism of the influence of sample preparation on the sequencing results.

Taking into account the fact that such variants can play a crucial role in the development and progression of diseases, it's required to enable discovery of large-scale changes in the genome. Now it's possible applying the algorithm and the corresponding open source software, CONVector, developed by the Parseq Lab team.

CONVector is currently being verified for inclusion in the diagnostic test system VariFind™, developed by the Parseq Lab team and designed to work with targeted panels.

While preparing the articles, the authors compared CONVector with the similar tools and showed its superiority over competitors; also the analytic sensitivity and specificity were determined, which is 84,62 % and of 100 % respectively.

The article is in open access on the website of the BMC Bioinformatics.

19.09.2016

ISNS2016 summary

9th ISNS International Meeting jointly with the 10th ISNS European Regional Meeting (Hague), in which we participated, ended on 14 September.

We are pleased that we met representatives of the largest screening laboratories and molecular genetic centers at university hospitals of such countries as Taiwan, Poland, Portugal, Costa Rica, Mexico, USA.

Pleased to note that one of the areas in which we are engaged: targeted diagnostic panels based on high-throughput sequencing (in particular, used for the diagnostics of cystic fibrosis), are in demand, and we're planning to develop the product, adapt it to the needs of a specific user, focusing on diseases that are specific to particular countries or ethnic groups.

For example, among Ashkenazi Jews high frequency of mutations of the GBA gene, leading to the development of Gaucher's disease, makes this diagnostic panel in this ethnic group in-demand.

The conference became a platform not only to acquire new and strengthen existing contacts, but also allowed us to collect information about current trends in neonatal screening in various countries. The information obtained will be used to promote company products taking into account specifics of the regional markets.

09.09.2016

Project news: molecular-genetic diagnostic panel for thyroid cancer

Scientific clinical centre Premed — European Technology started experimental verification of molecular-genetic diagnostic panel for thyroid cancer: a trial conducted experiments on clinical samples and selected cell lines with mutations typical of thyroid cancer. The results will define the optimal test parameters, and if necessary panel design will be adjusted, data about the test sensitivity and specificity will be received. In the end of this stage it will be possible to begin clinical trials to evaluate clinical accuracy of the test (ability to accurately determine the malignant forms of the thyroid gland in real conditions).

PreMed in cooperation with Research Centre of Medical Genetics (RCMG) and Parseq Lab is developing a method for molecular-genetic diagnosis of thyroid cancer. For a moment a design of a diagnostic panel for determent of the 456 somatic mutations in 25 genes is developed. That will allow not only to distinguish thyroid cancer from thyroid adenoma, but also to determine the subtype of cancer, which is important for the effective treatment and prognosis.

Research Centre of Medical Genetics (RCMG) (Moscow) is a leading Russian center in field of medical genetics and human genetics, the largest center in Russia, providing services for genetic counselling. The center conducts research for the diagnosis of hereditary and malignant diseases. Medical genetic research center constantly develops and implementing new methods of diagnostics.

Parseq Lab is a private research company that works with high-performance sequencing technology and its applications. Main directions of activity are: development and introduction of diagnostics test systems, solutions for human identification; genome data analysis. The company's products are used in scientific and clinical research in Russia, Europe, the Middle East and Latin America.

24.08.2016

Participation in ISNS 2016, Hague

From 11 to 14 September 2016 Parseq Lab participates in the annual meeting of the International Community of Neonatal Screening — ISNS 2016. The exhibition will take place during the meeting, where Parseq Lab will present the test-system VariFind™ Neoscreen assay designed for detecting hereditary diseases (cystic fibrosis, phenylketonuria and galactosemia). This validated test-system is used for confirming diagnostics of the abovementioned diseases in newborn screening, and based on the high-throughput sequencing.

Product presentation at such kind of meetings for professionals in the field of neonatal screening (for example for heads of national reference laboratories in Europe, South America, Australia and Asia, which has already scheduled meetings) is an opportunity to expand the market and find new partners.

Everyone is welcome at booth number 21 in Amazon Foyer hall, where you can get detailed information about all our products and services.

10.06.2016

Participation in the pitch session at Russian-Finnish BIOMED2016, St. Petersburg

Parseq Lab took part in the meeting of Russian and Finnish companies in the field of IT solutions for healthcare, that took place on 9th of June. The meeting was organized by Ingria Business-Incubator (St. Petersburg). Among the participants were representatives of start-up enterprises as well as investors, experts and government representatives such as FinPRO and Tekes.
Presentation of innovation projects for professionals is the opportunity for us for expanding the market and finding new partners. We hope that our new test system for detecting 19 genetic diseases for donors and couples planning a family will find clients worldwide, in Finland as well. More about the test system please read on a web-page, dedicated to the project.

20.05.2016

Participation in Systems Biology Workshop 2016, St. Petersburg

Parseq Lab — partner of Bioinformatics Institute for computational infrastructure at a five-day Systems Biology Workshop 2016, which takes place from 16 till 21 May. We support this important educational project and provide to the teachers and participants the cloud computing power to store and analyze data.

The workshop is organized for the third time by Bioinformatics Institute in collaboration with the ITMO University and Washington University in St. Louis; the event is held in a countryside in the suburb of St. Petersburg. Special guest of the seminar is one of the founders and leaders of statistical genetics Mark Daly (PhD).
The program includes theoretical and practical exercises and will focus on the transition from bioinformatics to experimental biology. Read more about the program at the Institute's website.

Systems biology is a relatively young and dynamically developing area at the intersection of biology, mathematical modeling and control theory. One of the features of systems biology is high requirements on computational resources for adequate analysis and modeling of complex biological systems.

One of Parseq Lab's core activity is providing services for analysis of genomic data and the provision of the related computing infrastructure within the cloud, and in the form of software and hardware.

We hope that our participation in the seminar allows participants to focus on the subject area without being distracted by technical issues, and the event will contribute to the development of bioinformatics and systems biology in Russia.

10.05.2016

Participation in HIDS 2016, Barcelona

Parseq Lab takes part in The Human Identification Solutions (HIDS): Innovations and Perspectives conference, organized by ThermoFisher Scientific. This year the event takes place in Barcelona, Spain, from 10th till 11th of May.

Nadezhda Pilshchikova, research scientist, will present a poster entitled "Massively parallel sequencing application to forensic expert level casework". The poster presents the results of 11 cases handled by Parseq Lab team within the framework of human identification project. It's worth of mentioning that 9 of 11 cases results were used in an experts' conclusions in court.

While work with this cases we used VariFind^TM HID assay — the application based on Massively Parallel Sequencing (MPS): this method is a great complementation to methods currently widely used in difficult cases. Cases handled during our work are divided into three groups: highly degraded DNA samples, mixtures and samples with low statistical significance of results.

In each group MPS-method has it's advantage: in mixtures it's possible to increase coverage, in degraded DNA samples it's possible to design panels with shorter amplicons with approximately equal length and in low statistical samples MPS allows including large number of loci in one assay to obtain extremely high discrimination power.

VariFind^TM HID assay was developed by research scientists, bioinformaticians and software specialists from Parseq Lab team and it continues to improve in collaboration with molecular-genetics forensics laboratories.

The assay includes reagents set, specialized software, IT-infrastructure for data analysis and consists of three modules designed for different application scenarios: human identification, biogeographical ancestry estimation, prediction of phenotypic traits.

More about the project you can read on HID-page.

Meet us at the HIDS2016 in Barcelona!

12.04.2016

Participation in NGS in Medical Genetics conference, Suzdal

From April 22 till 24 Parseq Lab presents a report at All-Russian scientific-practical conference "NGS in medical genetics", dedicated to the discussion of diagnostics of hereditary pathologies based on massively parallel sequencing technology (NGS/MPS).
Issues dedicated to bioinformatics analysis and data clinical interpretation will be discussed, moreover, recommendations on the usage of NGS/MPS for the diagnostics of hereditary diseases in clinical practice will be observed.
The conference will bring together scientists, medical laboratory technicians, geneticists and other experts in high-performance sequencing and data analysis.
Tamara Simakova (data analysis specialist) will hold a report entitled "Targeted Sequencing — Medical Research vs. Clinical Diagnostics", aimed at summing up company's own experience of the validated MPS test-system implementation for confirming diagnostics of frequent inherited monogenic diseases in clinical practice. There will be emphasized differences in approaches to usage and development of MPS-solutions in medical research and routine diagnostics.
Moreover, School for young scientists "NGS in medical genetics" will be held at the conference with the support of the Federal Agency for Scientific Organizations. During the School leading scientists and experts in the field of massively parallel sequencing will tell about the main stages of the analysis: from sample preparation to bioinformatics analysis and clinical interpretation of the data. Organizer of the conference and School: Federal State Budgetary Scientific Institution "Medical Genetic Research Center".

25.03.2016

Participation in Bio-IT World Conference & Expo 2016, Boston

Parseq Lab takes part in Bio-IT World Conference & Expo 2016 — the most important annual event for professionals in pharmaceutical, clinical, healthcare, and IT industries.

This year we take part with the report and poster presentation of the Projections project, developed for data exchange and scientific cooperation.

Projections is open source meta filesystem for access to data and metadata posted on heterogeneous resources, local and remote. The project is developed by Parseq Lab employees.

The 30-minute report "Projections Meta Filesystem — Novel Approach for Distributed Data Access and Annotation" is scheduled for Thursday, 7^th of April, 11:40, moreover, visitors can learn more about the project at Parseq Lab staff in the poster session area.

Bio-IT World Conference & Expo For us is a great opportunity to stay abreast of the latest trends in bioinformatics and IT, to learn experts reports and to present our new projects to the professional community.

25.02.2016

Participation in Genetics in Forensics Congress 2016, London

Parseq Lab takes part in Genetics in Forensics Congress 2016 with "Experience in casework application of targeted Massive Parallel Sequencing" report.

Genetics in Forensics Congress 2016

Parseq Lab takes part in Genetics in Forensics Congress 2016, that is held in London from 14 till 15 March, 2016.

The report will tell about VariFind^TM HID — the analytics solution designed by Parseq Lab team for forensics expertise.

This message will be especially interesting for experts in the field of molecular-genetics analysis — the report will include information about the assay usage in practice for conducting complex forensics expertize in cases when the classical methods of molecular-genetics analysis are non-informative: the analysis of extremely small amounts of DNA, strongly degraded and mixed DNA samples.

VariFind^TM HID assay

The assay is based on high-throughput DNA sequencing method that detects DNA sequence in each examined locus, while fragment analysis gives the ability to determine only the length of the alleles. This allows to get significantly more information in complex cases analysis, as well as to use single-nucleotide polymorphism in informative sites of the genome. VariFind^TM HID assay is of great interest for using in forensics expertise.

In collaboration with several forensics laboratories we have conducted dozens of samples expertize related to the "hopeless" cases — some results were used in an experts' conclusions in court.

VariFind^TM HID assay was developed by research scientists, bioinformaticians and software specialists from Parseq Lab team and it continues to improve in collaboration with molecular-genetics forensics laboratories.

The assay includes reagents set, specialized software, IT-infrastructure for data analysis and consists of three modules designed for different application scenarios: human identification, biogeographical ancestry estimation, prediction of phenotypic traits.

More about the analytical complex and its applications you will hear in "Experience in casework application of targeted Massive Parallel Sequencing" presentation. Exact time and place will be published in Congress agenda.

21.09.2015

Publication in Gene magazine

An article has been published describing a challenging case of cystic fibrosis diagnostics using our NGS-based assay (VariFind^TM Neonatal assay)

A novel combination of two rare pathogenic cystic fibrosis-causing mutations, p.S1159P and p.Y569H, was detected in a patient of 17 years age who suffered from pancreatic insufficiency of unknown etiology. Both mutations were previously described in compound heterozygous patients with moderate lung disease, who carried p.F508del on the other allele. However, this newly described combination of alleles is unusually associated with general gastrointestinal manifestations. Both mutations managed to be identified by virtue of using the Ion PGM next-generation sequencing (NGS) platform, thereby making our work a "proof of concept" for clinical application of a new NGS technology in conjunction with the developed software for variant annotation.

21.07.2015

Media about us: Genome Web

Genome Web published an article about EMC-developed platform for omics data management and storage on May, 13 2015.

Genome Web is an independent online news organization for global community of scientists, technology professionals, and executives who use and develop the latest advanced tools in molecular biology research and molecular diagnostics.

Read article

16.07.2015

Participation in MCCMB2015 conference, Moscow

Parseq Lab presented a poster on Moscow Conference on Computational Molecular Biology (MCCMB2015) — a biennial forum in various up-to-date areas of computational biology — that took place on July 16 – 19. The poster presented a project aiming the detection of large-scale deletions in PCR-enriched target sequencing data.

A multiplex PCR is a common technique in next generation sequencing sample preparation protocols. It enhances data quality and analysis throughput and reduces the price allowing accurate detection of small genetic variation events like single-nucleotide polymorphisms (SNP) and insertion/deletions (indels) in target genes. However, large-scale genetic variation such as few hundred base pare deletions and copy number variations (CNV) are mostly out of scope of the method due to complicated nature of PCR amplifacation. Considering the fact that such variants may play crucial role in disease development and progression it is essential to enable large-scale variants detection. An algorithm and corresponding tool developed by Parseq Lab team make possible to detect large-scale genetic variation thus providing the way to use the data in academics and clinical settings.

Using the tool named CONVector and dataset consisting of 500 samples 56 deletions and 4 duplications were predicted and confirmed by the means of molecular-biology methods. Among them is one novel deletion in PAH gene that was not reported up to the point. Overall method sensitivity is 0.95 and specificity is 0.954. The tool now undergoes extensive verification to be included into VariFind Neoscreen assay developed be Parseq Lab for newborn screening. Moscow Conference on Computational Molecular Biology (MCCMB) is a biennial forum in various up-to-date areas of computational biology. By taking part in this conference Parseq Lab aims to tell about it's innovation to professional community.

24.04.2015

Participation in Bio-IT World Conference&Expo 2015

April 21-23 Parseq Lab participated in Bio-IT World 2015 — the most important annual event for professionals in pharmaceutical, clinical, healthcare, and IT industries.
Our company took part in the expo as a co-exhibitor with EMC Research & Development center in Skolkovo. The stand exposition was devoted to presenting a prototype of scalable platform for omics Big Data storage and analysis. EMC R&D Center develops this platform in cooperation with Parseq Lab team.
We also held a presentation entitled "Cloud platform-as-a-service for collaborative omics data management" in tandem with EMC representative.

12.03.2015

Parseq Lab became the first Russian member of The Global Alliance for Genomics and Health (GA4GH)

GA4GH was established in 2013 to develop genomic medicine and coordinate approach for secure genomic and clinical data exchange and includes more than 260 participants from 29 countries. The Alliance brings together research organizations, omiсs data analysis and clinical interpretation service providers and information technology professionals, including European Society of Human Genetics, American Board of Genetic Counseling, University of Cambridge, EMBL-European Bioinformatics Institute, Illumina, Thermo Fisher Scientific и Google Genomics.

The alliance's aims to standardize practices of omics data processing in technological, social and ethical issues. GA4GH initiatives includes the implementation of projects aimed at developing utility approaches for clinical information processing (Clinical Working Group), genomic data secure storage and exchange (Security Working Group), technological standards development for omics data analysis tools and platforms (Data Working Group) and the analysis of the problems associated with the ethical and legal aspects of such data and to ensure controlled access to them (Regulatory and Ethics Working Group). Working groups initiatives include dozens of projects on various stages: from the earliest till completed. The latter includes the project of creating an application programming interface (API) for genetic variation data exchange, which will provide a uniform access to analysis results, regardless of data provider and kind of platform used. Such initiatives combine efforts for genetic variation studying and facilitate the use of the genetic analysis in medical applications.

Parseq Lab specializes in vertically-integrated solutions for clinical genomics and is currently in cooperation with the Research and Development Center of EMC in Skolkovo developing an IT platform for genomic and post-genomic data storage and processing. The company joined the alliance in order to exchange ideas and opinions with the world's leading industry experts and actively participate in building up international standards for development, implementation and usage of software tools for working with omics "Big Data" into clinics. Platform's architecture and technical features will address the issue of effective personal genetic information processing while maintaining confidentiality. The product announcement is scheduled for April 2015.

Parseq Lab's participation in building up of the modern industry of genomic research will provide products and services competitiveness in international markets.

05.03.2015

Participation in The Human Identification Solutions (HIDS): Innovations and Perspectives 2015, Madrid

Parseq Lab participated with a poster presentation in the conference The Human Identification Solutions (HIDS): Innovations and Perspectives 2015 that took place on March 4, 2015.

Two-day international conference, organized by Life Technologies, gathered leading experts in the field of forensics who presented reports devoted to the modern technologies and applications for the development and improvement of human identification methods.

The conference highlighted recent advances related to DNA analysis applied to human identification in forensics.

Classical methods involve the usage of short tandem repeats (STR) — small heterogeneous sites in genome which length varies for different people. Analyzing the length of a sufficiently large number of such sites in the DNA sample from the crime scene and the suspect can with high probability allow to say whether this sample belong to the suspect. The higher this probability, the more reliable will be criminalist's conclusion.

However, a number of drawbacks in the existing STR analysis technology has led to the emerging of different approach — the single nucleotide polymorphism (SNP) analysis that uses small DNA sequence changes, i.e. point mutations, as units of identification. SNP analysis allows to overcome some technical difficulties, increase the accuracy of paternity and parentage determination and extend method capabilities by making possible ethnic origin or even the criminal phenotype prediction according to the DNA discovered at the crime scene.

Next-generation sequencing (NGS) makes possible to analyze large number of markers together regardless of their type — STR or SNP that combines the advantages of both approaches. However, with the addition of SNP to the analysis another problem comes up: the human genome is very large, and there is a big number of known polymorphisms acting as analysis candidates. The polymorphisms vary in their properties and frequencies in the target populations and ethnic groups and the selection of the optimal markers set is sophisticated computational task. Therefore the question arises — how to choose the most suitable markers for the analysis among this variety?

Parseq Lab poster presentation "High-performance approach for population-specific HID panels development" was devoted to the way of solving this problem. The report has been prepared based on the results obtained during the development of high-performance panel of markers that is effective for the human identification on the territory of Russia. The project was started by Parseq Lab team in the spring 2014.

22.12.2014

Newborn Screening in Russia By Means of Next-Generation Sequencing

Russia will be one of the first countries in the world to implement the method of high-performance genomic analysis into newborns screening for severe hereditary diseases: cystic fibrosis, phenylketonuria and galactosemia.

At the end of the outgoing year Parseq Lab, an R&D company, specialized in development of integrated genetic diagnostics assays, has signed a contract whereby in winter of 2015 newborn screening for severe hereditary diseases in St. Petersburg, the second most populous city in Russia, will be carried out by means of next generation sequencing (NGS). It is one of the first precedents when genome sequencing technology is included in the diagnostic algorithm and routinely used in clinical practice.

VariFind^TM Neoscreen assay, an NGS-based diagnostic solution consists of custom AmpliSeq^TM-based targeted enrichment reagents, sequencing procedure protocols (for Ion PGM^TM System), specialized software and database for data analysis. The assay is intended for diagnostics of three inborn errors of metabolism: cystic fibrosis, phenylketonuria and galactosemia. It is designed to identify more than 460 clinically significant genetic variants thus being currently the widest assay on the market among the intended for neonatal screening ones. The development of the VariFind^TM Neoscreen assay took three years. The process was supported by the "Skolkovo" innovation center, the leading genetic institutions the Russian Academy of Medical Sciences — Medical Genetic Research Center (Moscow) and the Institute of Medical Genetics (Tomsk).

Clinical trials of the assay were held in three European laboratories: Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP, Portugal), the StabVida company (Portugal) and the Centre for Genomic Research University of Liverpool (England). It consisted of multiple independent testing of 576 samples, which included both clinical ones and samples from healthy individuals. Diagnostic characteristics of the assay have been established according to the results of this work: sensitivity — 99.31% and specificity — 100%.

The verification procedure, aimed to confirm the analytic properties of the assay, was performed in a certified Microsynth laboratory in Switzerland. 100 samples were tested both using the VariFind^TM Neoscreen assay and by means of Sanger bidirectional sequencing method. High analytical characteristics of the method have been proved at the result of verification: sensitivity — 99.34%; specificity — 97.22%; overall accuracy — 99.99%.

Alexander Pavlov, CEO Parseq Lab: "The development was completed in 2013, yet substantial processing of the assay to match the needs of healthcare institutions took us another year. VariFind^TM Neoscreen assay is, in fact, a hardware-software complex consisting of sequencing equipment (Ion PGM, Life Technologies), a server, a set of specific reagents for genome targeted research (Custom AmpliSeq panel, Life Technologies) and an IT-part (VariFind^TM Software) for quality evaluation and analysis of data. The software enables the annotation of the sequencing results, offering clinical geneticists all the attendant information on the clinically significant genetic variants found".

460 mutations are currently inherent in the diagnostic assay and are automatically annotated by software in case of their presence (320 of them are associated with cystic fibrosis). At the same time the assays design allows to sequence all coding and some significant non-coding regions of CFTR, GALT and PAH genes, which makes the mutations list extensible. The expansion of it will be performed in accordance with the new data emerge on mutations that lead to the development of cystic fibrosis, phenylketonuria and galactosemia. Such a broad diagnostic panel meets all the requirements of the health care system, including the applicability for use in population with a large genetic diversity. The diagnostic assay is multi-ethnic and can be efficiently used worldwide.

Alexander Pavlov, CEO Parseq Lab: "Not only in Russia but worldwide, VariFind^TMNeoscreen assay is one of the first NGS-based assays which made its way from research laboratories to the clinic. We expect to obtain a large volume of results next year when the routine use of the assay will start. It will indicate how the inclusion of high-throughput sequencing based DNA analysis improves the diagnostic efficiency of the existing algorithm of neonatal screening. It's designed and intended to be used as second tier test for cystic fibrosis screening and as a confirming stage for galactosemia and phenylketonuria".

St. Petersburg is one of the first regions where the high-performance genome sequencing method is going to be included in the neonatal screening algorithm. If this innovation shows good results, we can expect a wide spread of new technology utilization in healthcare facilities to deal with routine clinical problems.

Reference: cystic fibrosis is one of the most common severe hereditary diseases. This monogenic disorder is caused by mutations in the CFTR gene, which is known to have more than 1600 genetic variants. However only part of them lead to the development of the disease. Some of the revealed de novo mutations have also been proven to cause the disorder. Such variability makes sequencing a method of choice for genetic testing.

Cystic fibrosis is recommended to be screened in newborns by the World Health Organization, which is mandatory in many developed countries. In Russia, the screening is also performed and includes 4 stages: determination of biochemical markers — immunoreactive trypsinogen (IRT), a re-test of the IRT, sweat test and DNA diagnostics. However, only the first three stages are mandatory. At the same time, non-genetic methods of cystic fibrosis diagnostics are time-consuming and often giving false or questionable results.

Currently there are more than 25 different protocols of neonatal screening for cystic fibrosis worldwide, most of which include imperative DNA testing. This stage is intended to reduce the number of false-positive results and to verify the diagnosis in case of clinical and biochemical evidence of the disease presence.

28.11.2014

Omics technologies in Russia: science and practice conference in Skolkovo, Moscow

Presentation of data storage and analysis platform for medicine by Pareq Lab and EMC at "Omics technologies in Russia: science and practice" conference in Skolkovo, Moscow.

On the 8th of December Hypercube Skolkovo (Moscow) will host a conference "Omics technologies in Russia: science and practice", aimed at consolidating experts in development and clinical application of omics technologies in Russia. The event will join specialists in experimental biology, bioinformatics, economics, health care, genetic analysis service providers and pharmaceutical industry representatives.

The "Omics" biology has arised in the late 80-s when a wide range of tools and methods of molecular studies were found. The significant improvement of genetic methods and instruments, including in particular the next-generation sequencing (NGS) technology emerge, made possible the dynamic development of this science area.

The term "Omics sciences" refers to such areas of biology as genomics (studies genetic information in total), proteomics (large-scale studies of proteins), metabolomics (meta-sore compositions and concentrations studies), transcriptomics (expression and gene activity studies) and epigenomics (genome functional state and modifications not associated with its sequence changes studies). The suffix "-ome" in the above-mentioned terms indicates the orientation at the total studies rather than at the separate research of certain states and/or biological connections.

One of the conferences thesises theses is that omics technologies development will lead to a breakthrough in so-called personalized medicine, implying the quality of diagnostics, diseases prognosis and treatment improvement. For example, omics methods of analysis the transcription of certain genes are already used in clinical practice to assess the effectiveness of chemotherapy for certain types of cancer. In pharmacology omics methods are used to predict the efficacy and safety of the prescribed drugs.

It is important to note that the omics studies are a source of Big Data, that require special management and deep statistical analysis. These issues are studied and handled by an independent science discipline — bioinformatics — an applied research and development area, lying at the intersection of biology, mathematics, statistics and programming.
Problems of Big Data transfer, processing and storage may nevertheless hinder the development of high throughput methods of analysis and prevent its implementation into healthcare system. To solve this problem Parseq Lab team
in cooperation with EMC corporation R&D Centre are working at the development
of a software-technology platform, which will be presented at the conference by Anton Bragin, Head of the the bioinformatics department.

22.10.2014

Participation in EMC forum 2014, Moscow

An annual professional event in the IT industry — EMC Forum was held at Radisson Slavyanskaya on October 22, 2014; it brought together EMC Corporation customers and partners.

During the exhibition Parseq Lab presented for professional IT community platform concept for working with genomic, post-genomic data and metadata, developed in cooperation with EMC within the scientific and technical partnership.

The plans for its integration with the end-user applications and high-performance equipment for next-generation sequencing, including for the purpose of implementation of these technologies into clinical practice were announced.

As an example of the unique equipment for the "reading" the genome forum visitors were shown sequencer Ion PGM (Life Technologies), which is the base platform for performing a number of projects by Parseq Lab.

13.10.2014

Participation in Genetic testing and social responsibility conference, St. Petersburg

October 13, 2014 Genetic testing as a social responsibility and disability prevention conference took place in St. Petersburg.

Parseq Lab was among the experts who participated in the round table named The necessity and possibility of reducing the disability population in the region through the preventive genetics programs implementation, held within the framework of the event. The conference was also attended by representatives of the Committee on Health and Social Policy Committee, the members of the Ombudsman for Children's Rights and the Human Rights Ombudsman in St. Petersburg, the main experts in medical genetics and the heads of the city's leading medical institutions.

Conference organizers were National Association of organizations of patients with rare diseases Genetics and Genetico laboratory of Human Stem Cells Institute.

The aim of the event was to attract public attention to the medical genetics possibilities and individual diagnostic methods, as well as to offer the concept of their usage in clinical practice. Following issues relating to the incorporation of genetic testing in government programs were highlighted: newborn screening and certain categories of adults (e.g., carrying out genetic analysis of the parents planning a child), preimplantation genetic diagnosis (PGD).

The round table officials and leading experts of the subject area of St. Petersburg and other regions of Russia discussed the need for the collection of epidemiological data on genetically caused diseases (in particular the introduction patients register), the development of prevention programs and evaluating one's implementation impact on the regional economy, as well as the pressing issues of funding for genetic testing of patients with suspected hereditary diseases.

10.10.2014

Participation in Open Innovations forum 2014, Technopolis, Moscow

Parseq Lab will take part in Open Innovations Forum 2014 (Moscow) and present a project on cloud storage and genomic data and metadata processing.

The project is developed in cooperation with R&D Centre EMC in Skolkovo. The project aim is to implement flexible and scalable platform for genome data and metadata storage and processing.

At the moment problems associated with Big Data transfer, processing and storage may hinder spreading bioinformatics applications and its implementation in healthcare system.

Visit us at booth №13, Technopolis, Moscow.

23.09.2014

Business tour to Finland

Parseq Lab took part in three-days business-tour held on September, 16 — 18, 2014. The tour presented by itself visiting a number
of regions in Finland within the framework of programme for Finlanding contest finalists that took place in June 2014.

Finlanding is a russian-finish programme financed by Ministry of Employment and the Economy in Finland, aimed at russian hi-tech startups support to enter European markets.

A number of meetings with companies involved in similar to Parseq Lab activities were held (such as clinical diagnostics, research and development, information technology).

During the meetings cooperation possibilities were discussed with such companies as:
FIMM – Institute for Molecular Medicine Finland (Helsinki) – the biggest research and development institute in Finland in field of molecular biology;
BC Platforms (Helsinki) – IT-company, working in field of bioinformatics;
Fimlab (Tampere) – the largest diagnostic laboratory in Central Finland;
Genevia (Tampere) – fast-growing company, providing services for big data processing.

Matchmaking programme was organized with the support of Helsinki Business Hub, engaged in the development and support of international business in Finland as well as FinnMedi, providing support for companies in Life Science field.

Parseq Lab appreciates organizers executed work and express a special thanks to Anna Nevvonen for the up to date information providing and excellent tour organization.

19.08.2014

Participation in New technologies for genome analysis in prenatal diagnostics conference, Kazan

On August 23 Parseq Lab will hold a "Noninvasive diagnostics in combined screening of the first trimester" presentation within the framework of New technologies for genome analysis in prenatal diagnostics conference. The report will present the interim results of the project and emphasise the critical stages of the implementaion new type of diagnostics in prenatal screening combined first trimester.

Prenatal diagnostics is aimed for creation of a comprehensive diagnostic solution for non-invasive detection of aneuploidies in fetus by means of next generation sequencing of extracellular DNA extracted from mothers blood (plasma).

The decision allows the detection of Down syndrome (trisomy of chromosome 21), Edwards syndrome (trisomy of chromosome 18), Patau syndrome (trisomy chromosome 13), as well as common sex chromosome aneuploidy.
Upon completing of the development of diagnostic solutions is planned to conduct a comprehensive multicenter validation in collaboration with leading medical and genetic centers in Russia.

01.08.2014

Second Summer Bioinformatics School, St. Petersburg

From July 27 till August 1, 2014 took place the Second Summer Bioinformatics School for students, graduated students and young scientists, interested in bioinformatics took place in the Rayvola resort (Roshino). More than a hundred of young professionals from 25 different regions of Russia attended the event.

Bioinformatics Institute (St. Petersburg), St. Petersburg State University and St. Petersburg Academic University, Russian Academy of Sciences were among the organizers. More than 30 leading Russian and foreign scientists and experts conducted lectures, seminars and masterclasses during the six days of the school. Parseq Lab was also invited to speak.

Alexander Pavlov made a report "The role of technology NGS in science, medicine and education". The lecture highlighted the problem of penetration of modern technologies of high-throughput analysis into genome research, medical, and educational spheres.

Parseq Lab has also organized an educational game "The nonsense sequencer" as a part of the "Social & Sports" evening event, aimed to introduce the nuances of the leading sequencing platforms. The participating teams were able to compete in technical competence, ingenuity, creativity and knowledge of the biological nature of the sequencing process. Each of the winner-team members received a special prize — a certificate for their DNA sequencing! A vivid interest provoked an additional competition with the participation of the jury members: their task was to create from the available property a perfect alternative sequencing technology, free of any disadvantages of existing technologies.

15.06.2014

Participation in the VOGiS conference, Rostov-on-Don

Parseq Lab participated in the regional conference "VI Congress of Vavilov's Society of Geneticists and Breeders and associated genetic symposia".
The conference took place on 15-20 June 2014 in Rostov-on-don.
Within the framework of the conference on June 19 Alexander Pavlov made a report titled "Human genetics, medical genetics and genetic models for biomedical research" in the Medical Genetics section.

The Vavilov's Society of Geneticists and breeders is an interregional public organization founded in 1992 on the basis of the Russian national society and of some branches of all-Union society of geneticists and breeders n.a. N. I. Vavilov.
Within the framework of the Congress scientific symposia in the following areas:
1. Evolutionary and population genetics
2. Molecular and cellular mechanisms of genetic processes
3. Genomics, proteomics, bioinformatics and systems biology
4. Genetics development and stem cells
5. Human genetics, medical genetics and genetic models for biomedical research
6. Neurogenetics and genetics of behavior
7. Genetic bases of plant breeding and biotechnology
8. Ecological genetics
In addition, round tables were held on the following topics:
1. Genetic education
2. Social and ethical aspects of genetics.

14.06.2014

Participation in Big Data for Biology and Medicine conference, Moscow

Big Data for Biology and Medicine conference took place on June 30 and July 1, 2014 in Moscow and was organized by EMC research centre in Skolkovo.

Big Data arise at the junction of biology and Information Sciences and represents a data set resulting high-performance methods of analysis, such as NGS (next-generation sequencing). Biology and information sciences are connected by broad interdisciplinary field of knowledge — bioinformatics. Using bioinformatics tools makes possible to analyze the data.

At the conference Alexander Pavlov held a presentation "An integrated approach to the development of diagnostic solutions based on NGS", in which he considered the use of NGS in clinical practice, verification and validation of diagnostic solutions, genomic data processing and storage tasks, and introduced an algorithm of the diagnostic solution workflow from sample to the end user — the doctor-geneticist.

The main objective of the conference organizer — Research and Development Center of EMC in Skolkovo — solving research issues by working with partners from different practice areas such as medicine, biology or engineering. Several projects were launched in the field of genomic bioinformatics, intelligent networks and technologies for Big Data processing. Projects in the field of genomic bionformatics are realized together with the Parseq Lab team and the Laboratory of Algorithmic Biology Lab of St. Petersburg Academic University of the Russian Academy of Sciences, led by Professor Pavel Pevsner and Maxim Alexeyev.

To watch presentations please follow the link to Slidehare.

02.06.2014

Participation in pitch presentations contest at StartUp Village, Moscow

StartUp Village took place on June 2-3, 2014 at Skolkovo innovation centre in HypebCube and open air at near-by.
Alexander Pavlov, Parseq Lab CEO, held a presentation entitled "Validated genome sequencing solutions for healthcare" within the framework of Healthcare: disruptive technologies section. The presentation performed developed complex algorithms for high-throughput sequencing to be used for following tasks:
- sample preparation and sequencing protocols;
- user-free bioinformatics analysis and data quality control;
- clinical annotation and translation;
- medical report generation.

28.05.2014

Participation in Ion World Tour, Moscow

On May, 28 Parseq Lab took part in Ion World Tour, Moscow.
The conference is organized by Thermo Fisher Scientific and addressed to all professionals working with NGS technologies.
Alexander Pavlov held a presentation entitled "Using Ion PGM and AmpliSeq in clinical diagnostics. Aproach prospects".
Venue: Mariott Royal Aurora, 11 Petrovka str.

13.05.2014

All-Russian Association of the Scientific Committee for cystic fibrosis patients

Parseq Lab is included in the All-Russian Association of the Scientific Committee for cystic fibrosis patients.

The Scientific Committee is a subdivision of the All-Russian Association for patients with cystic fibrosis ("National Association for patients with cystic fibrosis" JSC) and created for the implementation of research projects and programs in the field of cystic fibrosis.

The Scientific Committee is elected by voting at session that was held on May 13, Moscow within the framework of scientific confenence "Cystic fibrisis school", Moscow.

You can study the list of committee members at www.mukoviscidoz.org web-site.

29.04.2014

Visiting Bio-IT World Conference & Expo, Boston, MA

Parseq Lab visited Bio-IT World Conference & Expo — one of the largest event in biomedicine and IT.
The conference took place on April 30—May 1, 2014 in Boston. We visited this event because it's a unique opportunity to stay up-to-date with latest trends in technologies, referred to biotechnology, such as bioinformatics, clinical genomics, etc. These tracks were of great interest because we make a strong accent to data analysis and storage part of the solutions for clinical research developed by our team.

27.04.2014

Participation in Human Genome Meeting (HGM) 2014 conference, Geneva

Parseq Lab took part in one of the major scientific conference for human genetics & genomics, genomic medicine, and genomic biology — Human Genome Meeting (HGM).

Human Genome Meeting (HGM) is the key annual conference organised by the Human Genome Organisation (HUGO). Initially structured as a dedicated meeting for Human Genome Mapping, the HGM has evolved into a major scientific conference for human genetics & genomics, genomic medicine, and genomic biology.

20.03.2014

Participation in Molecular Diagnostics 2014 conference, Moscow

Parseq Lab took part in the 8th Russia-wide Molecular Diagnostics scientific conference with international participation Molecular Diagnostics 2014, that took place on March 18—20, 2014 in Moscow.
During the second day of the conference Alexander Pavlov held a presentation
entitled "NGS Technology in diagnostics of inherent, oncology and oncohematology diseases" in section 12 — Breakthrough in Cancer Molecular Diagnostics: the Look into Future. During the third day Alexander Pavlov will hold a presentation
Practical steps towards the introduction of NGS to clinical genodiagnostics in section 19 — Most recent Developments in Next-Generation Sequencing (NGS).

19.07.2013

Parseq Lab begins clinical trials of NGS-based diagnostics solution in Europe

In the beginning of July 2013 the beginning of clinical trials of diagnostic system for severe hereditary diseases detection in newborns and carrier state in couples planning a family was announced.

The molecular genetic solution is based on high-throughput sequencing (NGS) technology and consists of reagents kits and specialized software. Since the solution is designed for the mutation detection in clinics a special attention has been given to the issue of traceability and unambiguity of sequencing results in order to ensure the accuracy and reproducibility of the assay. To provide extensive clinical trials Sequoia genetics established partnership with several European laboratories: Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP, Portugal), StabVida company (Portugal) and the Centre for Genome Research at the University of Liverpool (UK).

Alexander Pavlov, clinical trials coordinator:

"Within the framework of the solution development we've performed all the steps necessary for creation of a fully functional prototype. And now we're coming to the most important stage – evaluation of analytical and diagnostic properties of the test system –verification and validation steps. Verification is being conducted by comparing the DNA sequences received by the reference method (Sanger sequencing) and NGS. Thus we confirm that the analytical sensitivity and analytical specificity allow us reliably determine the primary sequence of DNA and the zygosity of the sample within the specified genome regions. Sample preparation and data analysis is being carried out in our laboratory, and Sanger sequencing itself - in a certified laboratory in Switzerland.

Validation is carried in European laboratories which properly certified for conduction of such studies and have a rich experience of using NGS sequencers in their routine practice for quite a long time. Investigations are being carried out in three reference laboratories on 576 DNA samples. All samples are characterized in terms of previously detected mutations and clinical status. The purpose of this study is to evaluate diagnostic sensitivity, diagnostic specificity, analytical performance, and also intra- and inter-laboratory reproducibility.

We expect the results of our study to show strong evidence that the developed solution has significant diagnostics advantages and be a good basis for certification of the method and its introduction into routine clinical practice".

08.07.2013

Participation in the FEBS 2013 conference, Saint-Petersburg

The 38th Congress of European Biochemical Societies Federation, one of the most representative venue for demonstration of latest world science achievements, was held in St. Petersburg in July 6—11, 2013.

Parseq Lab team took part in the congress satellite symposium "Disease investigation from gene to clinical manifestations" which was held under the patronage of Life Technologies corporation. Alexander Pavlov, Parseq Lab CEO, delivered the report "NGS in clinical practice. Newborn screening" at the symposium. Report was focused on prospects assessment of high-throughput sequencing usage in clinical practice, as well as practical experience in this field with reference to newborn screening.

Congress of European Biochemical Societies Federation 2013 was dedicated to "Mechanisms in Biology" theme. More than 3 000 delegates from all over the world — Russia, Europe, USA, Canada, Israel, Japan and China — attended the Congress. 40 thematic symposiums on key issues of medical biochemistry, biophysics, proteomics, genomics, bioinformatics, molecular biology, biotechnology, immunology, stem cell biology, cell biology, etc. were held.

27.05.2013

Participation in XI National Congress on Cystic Fibrosis

The XI National Congress "Cystic fibrosis in children and adults. A look into the future" was held in Moscow on May, 24—25, 2013, where Parseq Lab team presented a promising solution for the analysis of mutations in genes associated with three serious hereditary diseases (cystic fibrosis, phenylketonuria, galactosemia), using high-throughput sequencing method.

Despite the fact that our diagnostic solution is at the beginning stage of clinical trials, we have already received the first results suggesting the efficacy of mutation detection in both routine and complex cases of the disease, - says Alexander Pavlov, Parseq Lab team member. - Therefore, in my report I also highlighted interesting clinical cases we investigated using this technology. In particular, we found two rare mutations in patient that have been previously described only few times in the world. This case is unique because such combination of these two mutations was until not revealed. The patient had typical form of cystic fibrosis at late manifestation. And this is just a one case of the successful use of new technology.

Different experts in field of diagnostics and healthcare professionals attended the Congress. A lot of reports were focused on DNA- and biochemical diagnostics of cystic fibrosis, neonatal screening results analysis, treatment efficacy, as well as rare or unusual cases in clinical practice.
Venue: Moscow, Leninsky Prospekt 117, Ministry of Health Russian Children's Clinical Hospital

23.11.2012

Participation in SLUSH strartup conference, Helsinki

Parseq Lab took part in the pitch session of the international start-up conference SLUSH held on November 21—22, 2012 in Finland, Helsinki.

This year SLUSH — the largest startup event in Northern Europe — was held for the fifth time and gathered more than 2 500 guests, about 500 start-up companies and 200 investors from Russia, Europe, Asia and the USA. One of the conference's central partners was Skolkovo.
"The interest from potential investors was large, — said Irina Boreysho, marketing specialist, — this is, to my opinion, primarily due to the fact that as part of the pitch session was presented a new approach to genetic diagnostics and interpretation of data. Just a couple years ago technology of massively parallel sequencing was new, today this technology is widely used, but, unfortunately, mainly in research activities. Our team developed a solution that will make this kind of diagnostics available for clinicians without handling data analysis, solution include apliances for genomic data storage, and most importantly — data interpretation. Solution includes user-friendly software that will allow to identify clinically significant mutations and polymorphisms and obtain a conclusion about which disease or condition is diagnosed in a given patient".
SLUSH start-up conference is a great school for people who are just getting launched into the business arena and willing to learn how to present their products, seek to understand, which is what interests investors and how to present the project.
The questions raised after the pitch session were focused on the ideas of commercialisation, partners search, financing and promotion. In addition, potential investors were interested in qualifications of the team implementing the project and the question of return on investment.