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STOPGAP: a database for systematic target opportunity assessment by genetic association predictions

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Summary: We developed the STOPGAP (Systematic Target OPportunity assessment by Genetic Association Predictions) database, an extensive catalog of human genetic associations mapped to effector gene candidates. STOPGAP draws on a… Click to show full abstract

Summary: We developed the STOPGAP (Systematic Target OPportunity assessment by Genetic Association Predictions) database, an extensive catalog of human genetic associations mapped to effector gene candidates. STOPGAP draws on a variety of publicly available GWAS associations, linkage disequilibrium (LD) measures, functional genomic and variant annotation sources. Algorithms were developed to merge the association data, partition associations into non‐overlapping LD clusters, map variants to genes and produce a variant‐to‐gene score used to rank the relative confidence among potential effector genes. This database can be used for a multitude of investigations into the genes and genetic mechanisms underlying inter‐individual variation in human traits, as well as supporting drug discovery applications. Availability and implementation: Shell, R, Perl and Python scripts and STOPGAP R data files (version 2.5.1 at publication) are available at https://github.com/StatGenPRD/STOPGAP. Some of the most useful STOPGAP fields can be queried through an R Shiny web application at http://stopgapwebapp.com. Contact: [email protected] Supplementary information: Supplementary data are available at Bioinformatics online.

Keywords: genetic association; target opportunity; association; systematic target; assessment genetic; opportunity assessment

Journal Title: Bioinformatics
Year Published: 2017

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