Exome sequencing and large-scale analysis of electronic medical record-linked biobank data identify candidate deafness genes
Zippora Brownstein, Lara Kamal, Yazeed Zoabi, Keren Gesin et autres
INTRODUCTION: Rapid advances in whole-exome sequencing (WES) have enabled large-scale detection of pathogenic variants. Although hundreds of genes are implicated in hearing loss, up to half of inherited cases remain unsolved, limiting eligibility for gene therapy trials that require genetic diagnosis. Biobanks …
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Journal of Medical Genetics