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Pharmacogenomics ; 22(5): 251-261, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-33769074


Aim: To improve the identification and interpretation of pharmacogenetic variants through the integration of disease and drug-related traits. Materials & methods: We hypothesized that integrating genome-wide disease and pharmacogenomic data may drive new insights into drug toxicity and response by identifying shared genetic architecture. Pleiotropic variants were identified using a methodological framework incorporating colocalization analysis. Results: Using genome-wide association studies summary statistics from the UK Biobank, European Bioinformatics Institute genome-wide association studies catalog and the Pharmacogenomics Research Network, we validated pleiotropy at the ABCG2 locus between allopurinol response and gout and identified novel pleiotropy between antihypertensive-induced new-onset diabetes, Crohn's disease and inflammatory bowel disease at the IL18RAP/SLC9A4 locus. Conclusion: New mechanistic insights and genetic loci can be uncovered by identifying pleiotropy between disease and drug-related traits.

Bioinformatics ; 36(12): 3938-3940, 2020 06 01.
Artigo em Inglês | MEDLINE | ID: mdl-32251504


SUMMARY: Fully realizing the promise of personalized medicine will require rapid and accurate classification of pathogenic human variation. Multiplexed assays of variant effect (MAVEs) can experimentally test nearly all possible variants in selected gene targets. Planning a MAVE study involves identifying target genes with clinical impact, and identifying scalable functional assays for that target. Here, we describe MaveQuest, a web-based resource enabling systematic variant effect mapping studies by identifying potential functional assays, disease phenotypes and clinical relevance for nearly all human protein-coding genes. AVAILABILITY AND IMPLEMENTATION: MaveQuest service: MaveQuest source code: SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

Software , Humanos , Fenótipo