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Plataforma de análisis de datos de secuenciación de nueva generación para aplicaciones de investigación, clínicas y farmacéuticas


Oferta Tecnológica
Una pyme suiza ha desarrollado una plataforma para descubrir, anotar y clasificar automáticamente la variación genómica. Esta plataforma añade sobre 10 billones de anotaciones a partir de múltiples bases de datos, permite la navegación de datos de secuenciación de nueva generación y la identificación y exploración de la/s variante/s más relevante/s. La plataforma se utiliza en aplicaciones de investigación, clínicas o farmacéuticas. Se buscan socios que necesiten realizar análisis bioinformáticos de datos de la variación genética en humanos para establecer acuerdos de comercialización e investigación.


Multifunctional, fast Next Generation Sequencing data analysis platform to facilitate research, clinical and pharmaceutical applications
A Swiss SME developed a platform which automatically discovers, annotates and classifies genomic variation. It aggregates about 10 billion annotations from multiple databases, allows the navigation of Next Generation Sequencing data and the identification and exploration of the most relevant variant(s). Research, clinical or pharmaceutical applications are facilitated. Commercial or research agreements are sought with partners needing bioinformatics analysis of human genetic variation data.
DNA sequencing capacity is increasing exponentially with the rapid adoption of Next Generation Sequencing (NGS), while costs associated with NGS are dropping rapidly. This is spreading the practice of sequencing large panels of genes, the exome (all the roughly 19,000 protein coding genes in the genome) and/or the whole genome. Furthermore, while this trend has well established itself in academia, it is now rapidly spreading beyond the realm of academic research and into clinical practice. For example, recent advances in research have demonstrated that sophisticated analyses of exome data can be a valuable tool for diagnosing conditions that previously could not be identified through simple genetic testing. There are also thousands of scientific papers characterizing pathogenic variants and describing potential therapeutic interventions -and the body of published research is growing daily.

Therefore, analysing high-throughput sequencing data can be a challenge, as the researcher or clinician must navigate through a multitude of tools, algorithms, file formats, databases and solve technical issues that arise from incompatible components.

The aim of the Swiss bioinformatics SME is to offer clinicians and researchers a data-driven solution for making accurate molecular diagnoses that allows choosing the right therapies and thereby improving patient outcomes. The company achieves this by pioneering the automation of the currently laborious and disparate processes required for genome-scale analyses and annotation of data from NGS of large panels of hundreds or thousands of genes, exome (i.e. important sequences from all genes) or whole genome sequencing data.

The company has developed a web based bioinformatics platform which provides:

- Fast analysis of multiple NGS files.
- Genetic variation analysis of individuals, families or cohorts.
- A secure web portal, which offers tools for exploring variant annotation.
- Quality and summary report for each patient.
- Support from molecular geneticists.

The variant discovery platform can help to:

- Development of new fast and accurate genetic tests.
- Stratify patients for clinical trials, by confirming genetic variation(s) being targeted.
- Perform sub-population analysis to improve drug development, by identifying variations that correlate with differences in efficiency/tolerability.
- Discover/validate new drug targets and/or biomarkers for diagnostics, by identifying variants that correlate with phenotype(s) or disease.
- End "diagnostic odyssey" by facilitating accurate diagnoses of diseases that had previously been difficult to identify.
- Allow selection of optimal/targeted therapies by identifying genetic pathways causing disease.

The Swiss SME is looking for hospitals/clinics, academic/research institutions or biotechnology/pharmaceutical companies that work with human NGS genomic data and are interested in using a platform to help with data analysis and interpretation through a commercial agreement with technical assistance. The SME is also open for research cooperation agreements (potentially in the frame of Horizon 2020 projects) including joint co-development of specific applications and pipelines on the platform, where the partner specifies requirements and assists with own domain knowledge.

Advantages and Innovations:
The platform as compared with other existing technologies offers:

- High flexibility: data can be analyzed using the Swiss company´s servers or the cloud to suit customer/partner needs.
- Module structure, which facilitates incorporation of additional tools and makes also possible to integrate the platform into other existing software, such as laboratory information management software (LIMS).
- An excellent decision support system, the pipelines have been designed to achieve high quality standards, such as reproducibility, sensitivity and precision.
- Variant classification by proprietary algorithm using the 5-class pathogenicity score suggested by the Association for Clinical Genetic Science guidelines (Wallis, Y. et al, Practice Guidelines for the Evaluation of Pathogenicity and the Reporting of Sequence Variants in Clinical Molecular Genetics, 2013).

Additional advantages of the variants discovery platform are:

- Variant and annotation visualization in a secure web page.
- No bioinformatics knowledge is needed.
- "Software as a service" - no need for installation of any software by the user.
- Effective integration of data from a large variety of sources available at the user´s fingertips.
- Possibility to apply custom filters.
- Easy to create custom reports.
- Possibility to share variant data with other platforms.

Stage of Development:
Already on the market

Partner sought

Type and Role of Partner Sought:
The specific area of activity of the partner:
Hospitals/clinics, academic/research institutions or biotechnology/pharmaceutical companies that work with human NGS genomic data.

The tasks to be performed by the partner sought:
In case of commercial agreements with technical assistance the potential partner should generate NGS genomic data and have the need to analyze them. In case of research cooperation agreements the potential partner should specify the requirements and assist with own domain knowledge.


Type and Size of Client:
Industry SME <= 10
Already Engaged in Trans-National Cooperation:
Languages Spoken:


Technology Keywords:
01004001 Applications for Health
06003003 Genética poblacional
06001002 Investigaciones clínicas, ensayos
06001012 Investigaciones médicas
06003 Investigación del genoma