Phenotype-driven strategies for exome prioritization of human Mendelian disease genes

摘要: Whole exome sequencing has altered the way in which rare diseases are diagnosed and disease genes identified. Hundreds of novel disease-associated have been characterized by whole past five years, yet identification disease-causing mutations is often challenging because large number variants that being revealed. Gene prioritization aims to rank most probable candidate towards top a list potentially pathogenic variants. A promising new approach involves computational comparison phenotypic abnormalities individual investigated with those previously associated human or genetically modified model organisms. In this review, we compare contrast strengths weaknesses current phenotype-driven algorithms, including Phevor, Phen-Gen, eXtasy two algorithms developed our groups called PhenIX Exomiser. Computational phenotype analysis can substantially improve performance pipelines.