CENTOGENE Contributes to Europe-Wide Efforts to Update Guidelines for Whole Genome Sequencing (WGS) in Rare Disease Diagnostics
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Monday, May 23, 2022
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CAMBRIDGE, Mass. and ROSTOCK, Germany and BERLIN, May 23, 2022 (GLOBE NEWSWIRE) -- Centogene N.V. (Nasdaq: CNTG), the commercial-stage essential biodata life science partner for rare and neurodegenerative diseases, as part of a consortium of organizations in genetics, announced the release of updated recommendations for Whole Genome Sequencing (WGS) in the rare disease diagnostic setting. The report, which was published in the European Journal of Human Genetics, promotes standardized application of WGS – minimizing diagnostic delay to promote better health outcomes.
Key Points:
- At that time, the guidelines predominantly focused on Whole Exome Sequencing (WES) and gene panels to identify Single Nucleotide Variants (SNVs) and insertions/deletions (indels).
- EuroGentest, Horizon2020s Solve-RD team, CENTOGENE, and organizations throughout Europe teamed up to evaluate and update the 2016 NGS guidelines to outline the clinical application of WGS.
- Whole Genome Sequencing has been increasingly popular due to its advanced nature of capturing disease-causing variants in a single test.
- CENTOGENE has developed a global proprietary rare disease platform based on our real-world data repository of over 650,000 individuals representing over 120 different countries.