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BioBin is a tool to investigate the rare variant burden in genetic trait studies and the natural distribution of rare variants in ancestral populations aimed for analyzes and hypothesis testing. The BioBin algorithm generates bins based on various features, such as regulatory and evolutionary conserved regions, genes, and pathways. BioBin uses information stored in the LOKI database, the Library of Knowledge Integration.


GWAS; Sequence analysis


  • Operation: Sequence classification
  • Input: config-file; LOKI SQLite database; VCF-file; region-file; role-file; weight-file
  • Output: Bins report; locus report
  • Software interface: Command-line user interface
  • Language: C++
  • Operating system: Microsoft Windows
  • License: Other
  • Cost: Free
  • Version name: 2.3.0
  • Maturity: Mature
  • Credit: NIH; the National Institute on Aging, Public Health Service, the National Institute of General Medical Studies for the Medical-Scientist Training Program, Pennsylvania Department of Health using Tobacco CURE Funds
  • Contact: mdritchie _at_
  • Collection: -


Moore CB, Wallace JR, Frase AT, Pendergrass SA, Ritchie MD "BioBin: a bioinformatics tool for automating the binning of rare variants using publicly available biological knowledge." BMC Med Genomics. 2013;6 Suppl 2:S6. May 7.
PMID: 23819467
PMCID: PMC3654874

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