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

ABSTRACT: 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 is often difficult to compare across laboratories. To overcome this challenge, the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP) have introduced standards and guidelines for the interpretation of sequencing variants. Additionally, disease-specific refinements have been developed that include accurate thresholds for many criteria, enabling highly automated processing. This is of particular interest for common but heterogeneous disorders such as

SUBMITTER: Melidis DP 

PROVIDER: S-EPMC9529123 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature