BioBin: a bioinformatics tool for automating the binning of rare variants using publicly available biological knowledge.

ABSTRACT:

Background

With the recent decreasing cost of genome sequence data, there has been increasing interest in rare variants and methods to detect their association to disease. We developed BioBin, a flexible collapsing method inspired by biological knowledge that can be used to automate the binning of low frequency variants for association testing. We also built the Library of Knowledge Integration (LOKI), a repository of data assembled from public databases, which contains resources such as: dbSNP and gene Entrez database information from the National Center for Biotechnology (NCBI), pathway information from Gene Ontology (GO), Protein families database (Pfam), Kyoto Encyclopedia of Genes and Genomes (KEGG), Reactome, NetPath - signal transduction pathways, Open Regulatory Annotation

SUBMITTER: Moore CB 

PROVIDER: S-EPMC3654874 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature