Overinterpretation of high throughput sequencing data in medical genetics: first evidence against TMPRSS3/GJB2 digenic inheritance of hearing loss.

Monika Ołdak Urszula Lechowicz Agnieszka Pollak Dominika Oziębło Henryk Skarzynski

Published in: Journal of translational medicine (2019)

Our data provide evidence against TMPRSS3/GJB2 digenic inheritance of HL. As high throughput sequencing is increasingly used for genetic testing, particular caution should be taken to provide the patients with accurate genetic counseling.

Keyphrases

high throughput sequencing
hearing loss
electronic health record
mitochondrial dna
big data
healthcare
copy number
data analysis
smoking cessation
gene expression
men who have sex with men
hiv testing