Journal
SCIENCE ADVANCES
Volume 6, Issue 37, Pages -Publisher
AMER ASSOC ADVANCEMENT SCIENCE
DOI: 10.1126/sciadv.aba2083
Keywords
-
Categories
Funding
- Institute for Translational Medicine, CTSA from the NIH [UL1 TR000430]
- NIH [R01 DA006227-17, DA006227, R01 MH090941, R01 MH090951, R01 MH090937, R01MH101814, U01HG007593, R01MH101822, U01HG007598, U01MH104393, R01MH106842, R01HL142028, R01GM122924, R01MH107666, P30DK020595, UM1HG008901, R01GM124486, R01HG010067, R01HG002585]
- University of Chicago BSD Office of Diversity and Inclusion
- BSD Career Advancement for Postdocs Travel Award
- Common Fund of the Office of the Director, the U.S. NIH
- NCI [10XS170, 10XS171, 10X172, 12ST1039, 10ST1035, HHSN268201000029C, 5U41HG009494]
- NHGRI
- NHLBI
- NIDA
- NIMH
- NIA
- NINDS through NIH [HHSN261200800001E]
- Gordon and Betty Moore Foundation [GBMF 4559, 1K99HG009916-01, R01HG006855, BIO2015-70777-P]
- Ministerio de Economia y Competitividad
- FEDER funds
- la Caixa Foundation [100010434, LCF/BQ/SO15/52260001]
- NIH CTSA [UL1TR002550-01, 706636, R35HG010718, FPU15/03635]
- Ministerio de Educacion, Cultura y Deporte [R01MH109905, 1R01HG010480]
- Searle Scholar Program [R01HG008150, 5T32HG000044-22]
- NHGRI Institutional Training Grant in Genome Science
- EU IMI program [UE7-DIRECT-115317-1, 31003A_149984, DK110919, F32HG009987]
- Massachusetts Lions Eye Research Fund grant
- Small Grants program from the University of Chicago BSD Office of Diversity and Inclusion
- FNS [DK110919, F32HG009987, RNA1 (31003A_149984)]
- Swiss National Science Foundation (SNF) [31003A_149984] Funding Source: Swiss National Science Foundation (SNF)
Ask authors/readers for more resources
Large-scale genomic and transcriptomic initiatives offer unprecedented insight into complex traits, but clinical translation remains limited by variant-level associations without biological context and lack of analytic resources. Our resource, PhenomeXcan, synthesizes 8.87 million variants from genome-wide association study summary statistics on 4091 traits with transcriptomic data from 49 tissues in Genotype-Tissue Expression v8 into a gene-based, queryable platform including 22,515 genes. We developed a novel Bayesian colocalization method, fast enrichment estimation aided colocalization analysis (fastENLOC), to prioritize likely causal gene-trait associations. We successfully replicate associations from the phenome-wide association studies (PheWAS) catalog Online Mendelian Inheritance in Man, and an evidence-based curated gene list. Using PhenomeXcan results, we provide examples of novel and underreported genome-to-phenome associations, complex gene-trait clusters, shared causal genes between common and rare diseases via further integration of PhenomeXcan with ClinVar, and potential therapeutic targets. PhenomeXcan (phenomexcan.org) provides broad, user-friendly access to complex data for translational researchers.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available