Article
An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.
Genes - 23 Apr 2020
Cipriani Valentina, Pontikos Nikolas, Arno Gavin, Sergouniotis Panagiotis I, Lenassi Eva, Thawong Penpitcha, Danis Daniel, Michaelides Michel, Webster Andrew R, Moore Anthony T, Robinson Peter N, Jacobsen Julius O B, Smedley Damian
Abstract excerpt
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...
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