Novel features and enhancements in BioBin, a tool for the biologically inspired binning and association analysis of rare variants.

ABSTRACT

Motivation 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. Results: 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. Availability and implementation The BioBin software package is open source and freely available to users at http//www.ritchielab.com/software/biobin-download. Contact mdritchie@geisinger.edu. Supplementary information Supplementary data are available at Bioinformatics online.