Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.

Elias L SalfatiEmily G SpencerSarah E TopolEvan D MuseManuel RuedaJonathan R LucasGlenn N WagnerSteven CampmanEric J TopolAli Torkamani

Published in: Genome medicine (2019)

The basis of new findings ranged from improvement in variant classification tools, updated genetic databases, and updated clinical phenotypes. Our findings highlight the potential for re-analysis to reveal diagnostic variants in cases that remain undiagnosed after initial WES.

Keyphrases

copy number
genome wide
big data
deep learning
electronic health record
gene expression
dna methylation
climate change
human health
data analysis