ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.

ABSTRACT:

Background

Whole-exome sequencing (WES) and whole-genome sequencing (WGS) have become indispensable tools to solve rare Mendelian genetic conditions. Nevertheless, there is still an urgent need for sensitive, fast algorithms to maximise WES/WGS diagnostic yield in rare disease patients. Most tools devoted to this aim take advantage of patient phenotype information for prioritization of genomic data, although are often limited by incomplete gene-phenotype knowledge stored in biomedical databases and a lack of proper benchmarking on real-world patient cohorts.

Methods

We developed ClinPrior, a novel method for the analysis of WES/WGS data that ranks candidate causal variants based on the patient's standardized phenotypic features (in Human Phenotype Ontology (HPO) terms). The

SUBMITTER: Schluter A 

PROVIDER: S-EPMC10486091 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature