ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs.

Marina T DiStefanoSarah E HemphillAndrea M OzaRebecca K SiegertAndrew R GrantMadeline Y HughesBrandon J CushmanHela AzaiezKevin T BoothAlex ChapinHatice DuzkaleTatsuo MatsunagaJun ShenWenying ZhangMargaret KennaLisa A SchimmentiMustafa TekinHeidi L RehmAhmad N Abou TayounSami S Amrnull null

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)

This gene curation approach serves to optimize the clinical sensitivity of genetic testing while reducing the rate of uncertain or ambiguous test results caused by the interrogation of genes with insufficient evidence of a disease link.

Keyphrases

genome wide
genome wide identification
hearing loss
copy number
gene expression