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Integrating exome and whole genome analysis with the Human Phenotype Ontology for discovery of new genes in rare eye diseases
Author(s) -
Pontikos Nikolas
Publication year - 2019
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.2019.5001
Subject(s) - exome , exome sequencing , computational biology , phenotype , genome , gene , gene ontology , human genome , biology , genetics , bioinformatics , gene expression
Exome and whole genome sequencing have become the preferred approaches for discovering novel causal mutations in monogenic disorders. The effectiveness of these approaches has greatly improved thanks to large datasets of non‐monogenic controls such as Exac and Gnomad, and bioinformatics approaches such as the Variant Effect Predictor. In parallel the detailed encoding of clinical features using the Human Phenotype Ontology (HPO) is greatly helping refine our candidate gene lists by linking patients across databases, mining literature phenotypes from model organisms, and providing improved statistical power through grouping of patients by HPO term. To this aim, we have developed Phenopolis ( www.phenopolis.org ) for browsing and discovery of gene to phenotype relationships in our large dataset (6000) of HPO annotated exomes and genomes.