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

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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

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