Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohort.

Fleur C GartonBeben BenyaminQiongyi ZhaoZhijun LiuJacob GrattenAnjali K HendersZong-Hong ZhangJanette EdsonSarah FurlongSarah MorganSusan HeggieKathryn ThorpeCasey PflugerKaren A MatherPerminder S SachdevAllan F McRaeMatthew R RobinsonSonia ShahPeter M VisscherMarie MangelsdorfRobert D HendersonNaomi R WrayPamela A McCombe

Published in: Molecular genetics & genomic medicine (2017)

The use of WES in a typical ALS clinic demonstrates a critical approach to variant assessment with the capability to combine cohorts to enhance the largely unknown genetic basis of ALS.

Keyphrases

amyotrophic lateral sclerosis
dna methylation
genome wide
primary care
gene expression
clinical evaluation