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Oxford University Press, Bioinformatics, 17(33), p. 2784-2786, 2017

DOI: 10.1093/bioinformatics/btx274

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

This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Data provided by SHERPA/RoMEO

Abstract

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. Supplementary information Supplementary data are available at Bioinformatics online.