Research output: Contribution to journal › Article › peer-review
PheLiGe : an interactive database of billions of human genotype-phenotype associations. / Shashkova, Tatiana I.; Pakhomov, Eugene D.; Gorev, Denis D. et al.
In: Nucleic Acids Research, Vol. 49, No. D1, 08.01.2021, p. D1347-D1350.Research output: Contribution to journal › Article › peer-review
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TY - JOUR
T1 - PheLiGe
T2 - an interactive database of billions of human genotype-phenotype associations
AU - Shashkova, Tatiana I.
AU - Pakhomov, Eugene D.
AU - Gorev, Denis D.
AU - Karssen, Lennart C.
AU - Joshi, Peter K.
AU - Aulchenko, Yurii S.
N1 - Publisher Copyright: © 2021 The Author(s) 2020. Published by Oxford University Press on behalf of Nucleic Acids Research. Copyright: Copyright 2021 Elsevier B.V., All rights reserved.
PY - 2021/1/8
Y1 - 2021/1/8
N2 - Genome-wide association studies have provided a vast array of publicly available SNP × phenotype association results. However, they are often in disparate repositories and formats, making downstream analyses difficult and time consuming. PheLiGe (https://phelige.com) is a database that provides easy access to such results via a web interface. The underlying database currently stores >75 billion genotype-phenotype associations from 7347 genome-wide and 1.2 million region-wide (e.g. cis-eQTL) association scans. The web interface allows for investigation of regional genotype-phenotype associations across many phenotypes, giving insights into the biological function affected by the variant in question. Furthermore, PheLiGe can compare regional patterns of association between different traits. This analysis can ascertain whether a co-association is due to pleiotropy or linkage. Moreover, comparison of association patterns for a complex trait of interest and gene expression and protein levels can implicate causal genes.
AB - Genome-wide association studies have provided a vast array of publicly available SNP × phenotype association results. However, they are often in disparate repositories and formats, making downstream analyses difficult and time consuming. PheLiGe (https://phelige.com) is a database that provides easy access to such results via a web interface. The underlying database currently stores >75 billion genotype-phenotype associations from 7347 genome-wide and 1.2 million region-wide (e.g. cis-eQTL) association scans. The web interface allows for investigation of regional genotype-phenotype associations across many phenotypes, giving insights into the biological function affected by the variant in question. Furthermore, PheLiGe can compare regional patterns of association between different traits. This analysis can ascertain whether a co-association is due to pleiotropy or linkage. Moreover, comparison of association patterns for a complex trait of interest and gene expression and protein levels can implicate causal genes.
KW - Databases, Genetic
KW - Disease/genetics
KW - Genetic Association Studies
KW - Genetic Linkage
KW - Genetic Predisposition to Disease
KW - Genome, Human
KW - Genome-Wide Association Study
KW - Genotype
KW - Humans
KW - Internet
KW - Phenotype
KW - Polymorphism, Single Nucleotide
KW - Quantitative Trait, Heritable
KW - Software
UR - http://www.scopus.com/inward/record.url?scp=85099427237&partnerID=8YFLogxK
U2 - 10.1093/nar/gkaa1086
DO - 10.1093/nar/gkaa1086
M3 - Article
C2 - 33245779
AN - SCOPUS:85099427237
VL - 49
SP - D1347-D1350
JO - Nucleic Acids Research
JF - Nucleic Acids Research
SN - 0305-1048
IS - D1
ER -
ID: 27486290