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@article{Alhuzimi:2017:10.1002/humu.23377,
author = {Alhuzimi, E and Leal, LG and Sternberg, MJE and David, A},
doi = {10.1002/humu.23377},
journal = {Human Mutation},
pages = {365--370},
title = {Properties of human genes guided by their enrichment in rare and common variants},
url = {http://dx.doi.org/10.1002/humu.23377},
volume = {39},
year = {2017}
}

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TY  - JOUR
AB  - We analyzed 563,099 common (minor allele frequency, MAF≥0.01) and rare (MAF < 0.01) genetic variants annotated in ExAC and UniProt and 26,884 disease-causing variants from ClinVar and UniProt occurring in the coding region of 17,975 human protein-coding genes. Three novel sets of genes were identified: those enriched in rare variants (n = 32 genes), in common variants (n = 282 genes), and in disease-causing variants (n = 800 genes). Genes enriched in rare variants have far greater similarities in terms of biological and network properties to genes enriched in disease-causing variants, than to genes enriched in common variants. However, in half of the genes enriched in rare variants (AOC2, MAMDC4, ANKHD1, CDC42BPB, SPAG5, TRRAP, TANC2, IQCH, USP54, SRRM2, DOPEY2, and PITPNM1), no disease-causing variants have been identified in major, publicly available databases. Thus, genetic variants in these genes are strong candidates for disease and their identification, as part of sequencing studies, should prompt further in vitro analyses.
AU  - Alhuzimi,E
AU  - Leal,LG
AU  - Sternberg,MJE
AU  - David,A
DO  - 10.1002/humu.23377
EP  - 370
PY  - 2017///
SN  - 1059-7794
SP  - 365
TI  - Properties of human genes guided by their enrichment in rare and common variants
T2  - Human Mutation
UR  - http://dx.doi.org/10.1002/humu.23377
UR  - http://hdl.handle.net/10044/1/54389
VL  - 39
ER  -

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