Clement Chatelain , Samuel Lessard , Katherine Klinger , Shameer Khader , Emanuele de Rinaldis
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Building a human genetic data lake to scale up insights for drug discovery
Genome-wide association studies (GWAS) have identified numerous disease-associated variants, yet efficient storage and analysis of genetic data remain a challenge. Here, we propose a scalable genetic data lake (GDL) integrating GWAS, molecular quantitative trait loci (mQTL), and epigenetic data within a big data infrastructure to enable rapid analysis. This framework allows large-scale computations, prioritizing 54 586 gene–trait associations, including 34 779 found exclusively in consortium data sets. By leveraging public, consortium, and private data, this approach enhances target discovery and indication selection, accelerating drug development.
期刊介绍:
Drug Discovery Today delivers informed and highly current reviews for the discovery community. The magazine addresses not only the rapid scientific developments in drug discovery associated technologies but also the management, commercial and regulatory issues that increasingly play a part in how R&D is planned, structured and executed.
Features include comment by international experts, news and analysis of important developments, reviews of key scientific and strategic issues, overviews of recent progress in specific therapeutic areas and conference reports.