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

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 oft...

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Detalles Bibliográficos
Autores principales: Melidis, Damianos P., Landgraf, Christian, Schmidt, Gunnar, Schöner-Heinisch, Anja, von Hardenberg, Sandra, Lesinski-Schiedat, Anke, Nejdl, Wolfgang, Auber, Bernd
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9529123/
https://www.ncbi.nlm.nih.gov/pubmed/36129964
http://dx.doi.org/10.1371/journal.pcbi.1009785

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9529123/
https://www.ncbi.nlm.nih.gov/pubmed/36129964
http://dx.doi.org/10.1371/journal.pcbi.1009785

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