Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases.

ABSTRACT: It's challenging work to identify disease-causing genes from the next-generation sequencing (NGS) data of patients with Mendelian disorders. To improve this situation, researchers have developed many phenotype-driven gene prioritization methods using a patient's genotype and phenotype information, or phenotype information only as input to rank the candidate's pathogenic genes. Evaluations of these ranking methods provide practitioners with convenience for choosing an appropriate tool for their workflows, but retrospective benchmarks are underpowered to provide statistically significant results in their attempt to differentiate. In this research, the performance of ten recognized causal-gene prioritization methods was benchmarked using 305 cases from the Deciphering Developmental Disorders

SUBMITTER: Yuan X 

PROVIDER: S-EPMC8921623 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature