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

Anna O. Basile; Marta Byrska-Bishop; John Wallace; Alexander T. Frase; Marylyn D. Ritchie

doi:10.1093/bioinformatics/btx559

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

Anna O. Basile, Marta Byrska-Bishop, John Wallace, Alexander T. Frase, Marylyn D. Ritchie

Research output: Contribution to journal › Article › peer-review

9 Scopus citations

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.

Original language	English (US)
Pages (from-to)	527-529
Number of pages	3
Journal	Bioinformatics
Volume	34
Issue number	3
DOIs	https://doi.org/10.1093/bioinformatics/btx559
State	Published - Feb 1 2018

All Science Journal Classification (ASJC) codes

Statistics and Probability
Biochemistry
Molecular Biology
Computer Science Applications
Computational Theory and Mathematics
Computational Mathematics

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10.1093/bioinformatics/btx559

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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.",

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AU - Byrska-Bishop, Marta

AU - Wallace, John

AU - Frase, Alexander T.

AU - Ritchie, Marylyn D.

N1 - Publisher Copyright: © The Author 2017.

PY - 2018/2/1

Y1 - 2018/2/1

N2 - 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.

AB - 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.

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

Abstract

All Science Journal Classification (ASJC) codes

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