Ontology highlight
ABSTRACT:
SUBMITTER: Cipriani V
PROVIDER: S-EPMC7230372 | biostudies-literature | 2020 Apr
REPOSITORIES: biostudies-literature
Cipriani Valentina V Pontikos Nikolas N Arno Gavin G Sergouniotis Panagiotis I PI Lenassi Eva E Thawong Penpitcha P Danis Daniel D Michaelides Michel M Webster Andrew R AR Moore Anthony T AT Robinson Peter N PN Jacobsen Julius O B JOB Smedley Damian D
Genes 20200423 4
Next-generation sequencing has revolutionized rare disease diagnostics, but many patients remain without a molecular diagnosis, particularly because many candidate variants usually survive despite strict filtering. Exomiser was launched in 2014 as a Java tool that performs an integrative analysis of patients' sequencing data and their phenotypes encoded with Human Phenotype Ontology (HPO) terms. It prioritizes variants by leveraging information on variant frequency, predicted pathogenicity, and ...[more]