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- Title
STOPGAP: a database for systematic target opportunity assessment by genetic association predictions.
- Authors
Judong Shen; Kijoung Song; Nelson, Matthew R.; Slater, Andrew J.; Ferrero, Enrico
- 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 nonoverlapping 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.
- Subjects
DATABASES; GENOMICS; LINKAGE disequilibrium; PYTHON programming language; HUMAN genetic variation
- Publication
Bioinformatics, 2017, Vol 33, Issue 17, p2784
- ISSN
1367-4803
- Publication type
Article
- DOI
10.1093/bioinformatics/btx274