Using large sequencing data sets to refine intragenic disease regions and prioritize clinical variant interpretation.

Sami S Amr Saeed H Al Turki Matthew S Lebo Mahdi Sarmady Michael J Bamshad Ahmad N Abou Tayoun

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2016)

This approach leverages domain functional annotation and associated disease in each gene to prioritize candidate disease variants, increasing the sensitivity and specificity of novel variant assessment within these genes.Genet Med advance online publication 22 September 2016.

Keyphrases

copy number
genome wide
healthcare
gene expression
single cell
health information
genome wide identification
structural basis