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Centogene N : CONVENING NOTICE - Form 6-K

CENTOGENE Contributes to Europe-Wide Efforts to Update Guidelines for Whole Genome Sequencing (WGS) in Rare Disease Diagnostics

23.05.2022 - Newly established WGS recommendations published in the European Journal of Human Genetics Collaborative initiative leverages CENTOGENE’s differentiated diagnostic expertise with testing performed in over 650,000 individuals globallyRecommendations . Seite 1

CENTOGENE s Ground-Breaking Family Genetic Research

CENTOGENE s Ground-Breaking Family Genetic Research
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CENTOGENE s Ground-Breaking Family Genetic Research Published in the New England Journal of

CENTOGENE s Ground-Breaking Family Genetic Research Published in the New England Journal of
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Six New Rare Diseases Identified by Exome-Genome Data Mining Project

Six New Rare Diseases Identified by Exome-Genome Data Mining Project May 5, 2021 A new study has found six novel gene-disease associations for a wide range of genetic disorders and confirmed 31 additional candidate genes. The findings are a result of in-depth analyses using Centogene’s rare disease Bio/Databank, after standard genetic testing was unable to determine the exact cause of patients’ symptoms. Based on these results, over 90 patients finally received a diagnosis, and many others could also benefit. In addition, the study revealed potential treatment options for patients based on known-disease overlaps. Genetics in Medicine.  Using it’s rare disease Bio/Databank, Centogene carried out an extensive exome and genome sequencing evaluation of genes with no known disease association in patients suffering as yet undiagnosed genetic disease.

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