The human gene damage index as a gene-level approach to prioritizing exome variants

By Yuval Itan, L. Shang, B. Boisson, E. Patin, Alexandre Bolze, M. Moncada-Vélez, Eric M. Scott, Michael J. Ciancanelli, Fabien G. Lafaille, J. Markle and 16 more. 2015

236 citations recorded by the source corpus.

Subfields: Genetics, Molecular Biology

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Citations in the corpus

DEOGEN2: prediction and interactive visualization of single amino acid variant deleteriousness in human proteins (2017, background): “Since natural selection acts on genes in function of their relevance for human health, the most frequently mutated genes are more likely to harbor nearly-neutral variants, while variants on least damaged genes are more likely to be diseaserelated (21).”
Mutation severity spectrum of rare alleles in the human genome is predictive of disease type (2019, methodology): “The 17 gene-level features include three numbers of protein-protein interactions (IntAct, BioGrid, and ConsensusPathDB) [111–113], four experimental measures of gene essentiality [64, 65, 114, 115], four scores of estimated haploinsufficiency (P(HI), HIPred_score and GHIS) [26, 29, 116] or gene esse”
GAVIN: Gene-Aware Variant INterpretation for medical sequencing (2017, unknown): “having many missense or loss-of-function mutations [26].”
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies (2017, unknown): “HGMD has also been used by a number of different groups to aid the development of a wide variety of post-NGS variant interpretation and exome prioritisation algorithms including MutPred (Li et al. 2009), MutPred Splice (Mort et al. 2014), PROVEAN (Choi et al. 2012), CAROL (Lopes et al. 2012), regSNP”