Novel features and enhancements in BioBin, a tool for the biologically inspired binning and association analysis of rare variants.
basic_science · Level V
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- Record sourced from PubMed, PMID 28968757.
- Also identified by DOI 10.1093/bioinformatics/btx559 and PMC identifier 5860358.
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Abstract
BioBin is an automated bioinformatics tool for the multi-level biological binning of sequence variants. Herein, we present a significant update to BioBin which expands the software to facilitate a comprehensive rare variant analysis and incorporates novel features and analysis enhancements. In BioBin 2.3, we extend our software tool by implementing statistical association testing, updating the binning algorithm, as well as incorporating novel analysis features providing for a robust, highly customizable, and unified rare variant analysis tool. The BioBin software package is open source and freely available to users at http://www.ritchielab.com/software/biobin-download. mdritchie@geisinger.edu. Supplementary data are available at Bioinformatics online.
Medical subject headings
- Genetic Association Studies
- Genetic Variation
- Software