An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data

An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data

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...

Full description

Bibliographic Details
Main Authors: Valentina Cipriani, Nikolas Pontikos, Gavin Arno, Panagiotis I. Sergouniotis, Eva Lenassi, Penpitcha Thawong, Daniel Danis, Michel Michaelides, Andrew R. Webster, Anthony T. Moore, Peter N. Robinson, Julius O.B. Jacobsen, Damian Smedley
Format: Article
Language:English
Published: MDPI AG 2020-04-01
Series:Genes
Subjects:
whole-exome sequencing
whole-genome sequencing
rare disease
variant prioritization
human phenotype ontology
phenotypic similarity
Online Access:https://www.mdpi.com/2073-4425/11/4/460

Internet

https://www.mdpi.com/2073-4425/11/4/460

Similar Items