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

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 enhancemen...

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Detalles Bibliográficos
Autores principales: Basile, Anna O, Byrska-Bishop, Marta, Wallace, John, Frase, Alexander T, Ritchie, Marylyn D
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2018
Materias:
Applications Notes
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5860358/
https://www.ncbi.nlm.nih.gov/pubmed/28968757
http://dx.doi.org/10.1093/bioinformatics/btx559
Descripción
Sumario: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 SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

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