Xrare: a machine learning method jointly modeling phenotypes and genetic evidence for rare disease diagnosis.
Journal:
Genetics in medicine : official journal of the American College of Medical Genetics
Published Date:
Jan 24, 2019
Abstract
PURPOSE: Despite the successful progress next-generation sequencing technologies has achieved in diagnosing the genetic cause of rare Mendelian diseases, the current diagnostic rate is still far from satisfactory because of heterogeneity, imprecision, and noise in disease phenotype descriptions and insufficient utilization of expert knowledge in clinical genetics. To overcome these difficulties, we present a novel method called Xrare for the prioritization of causative gene variants in rare disease diagnosis.