Whole exome analysis of patients in Japan with hearing loss reveals high heterogeneity among responsible and novel candidate genes.

Hideki MutaiYukihide MomozawaYoichiro KamataniAtsuko NakanoHirokazu SakamotoTetsuya TakiguchiKiyomitsu NaraMichiaki KuboTatsuo Matsunaga

Published in: Orphanet journal of rare diseases (2022)

Our findings demonstrate that four-tier assessment of WES data is efficient and can detect novel candidate genes associated with hearing loss, in addition to pathogenic variants of known deafness genes.

Keyphrases

hearing loss
copy number
genome wide
electronic health record
single cell
big data
dna methylation
gene expression
machine learning
transcription factor