Whole-exome sequencing for variant discovery in blepharospasm.

Jun TianSatya R VemulaJianfeng XiaoEnza Maria ValenteGiovanni DefazioSimona PetrucciAngelo Fabio GiganteMonika Rudzińska-BarZbigniew K WszolekKathleen D KennellyRyan J UittiJay A van GerpenPeter HederaElizabeth J TrimbleMark S LeDoux

Published in: Molecular genetics & genomic medicine (2018)

Our WES datasets provide a platform for future studies of BSP genetics which will demand careful consideration of incomplete penetrance, pleiotropy, population stratification, and oligogenic inheritance patterns.

Keyphrases

high throughput
small molecule
current status
mitochondrial dna
case control
rna seq