InpherNet accelerates monogenic disease diagnosis using patients' candidate genes' neighbors.
Journal:
Genetics in medicine : official journal of the American College of Medical Genetics
Published Date:
Jul 6, 2021
Abstract
PURPOSE: Roughly 70% of suspected Mendelian disease patients remain undiagnosed after genome sequencing, partly because knowledge about pathogenic genes is incomplete and constantly growing. Generating a novel pathogenic gene hypothesis from patient data can be time-consuming especially where cohort-based analysis is not available.