Article

GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing loss

2021-12-24

Abstract excerpt

Since next-generation sequencing (NGS) has become widely available, large gene panels containing up to several hundred genes can be sequenced cost-efficiently. However, the interpretation of the often large numbers of sequence variants detected when using NGS is laborious, prone to errors and often not comparable across laboratories. To overcome this challenge, the American College of Medical Genetics and Genomics...

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Literature Corpus work: 8c1287e6-c2f9-58de-abcd-342c0e2e64ae
DOI: 10.1101/2021.12.23.474074

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