Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.

Xiaolin ZhuSlavé PetrovskiPingxing XieElizabeth K RuzzoYi-Fan LuK Melodi McSweeneyBruria Ben-ZeevAndreea NissenkornYair AniksterDanit Oz-LeviRyan S DhindsaYuki HitomiKelly SchochRebecca C SpillmannGali HeimerDina Marek-YagelMichal TzadokYujun HanGordon WorleyJennifer GoldsteinYong-Hui JiangDoron LancetElon PrasVandana ShashiDuncan McHaleAnna C NeedDavid B Goldstein

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2015)

This work indicates that the application of appropriate bioinformatics analyses to clinical sequence data can also help implicate novel disease genes and suggest expanded phenotypes for known disease genes. These analyses further suggest that some cases resolved by whole-exome sequencing will have direct therapeutic implications.

Keyphrases

genome wide
genome wide identification
electronic health record
bioinformatics analysis
gene expression
copy number
transcription factor
deep learning
artificial intelligence