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ppBAM: ProteinPaint BAM track for read alignment visualization and variant genotyping

SUMMARY: ProteinPaint BAM track (ppBAM) is designed to assist variant review for cancer research and clinical genomics. With performant server-side computing and rendering, ppBAM supports on-the-fly variant genotyping of thousands of reads using Smith–Waterman alignment. To better visualize support...

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Detalles Bibliográficos
Autores principales: Paul, Robin, Wang, Jian, Reilly, Colleen, Sioson, Edgar, Patel, Jaimin, Matt, Gavriel, Acić, Aleksandar, Zhou, Xin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10182850/
https://www.ncbi.nlm.nih.gov/pubmed/37140547
http://dx.doi.org/10.1093/bioinformatics/btad300
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author Paul, Robin
Wang, Jian
Reilly, Colleen
Sioson, Edgar
Patel, Jaimin
Matt, Gavriel
Acić, Aleksandar
Zhou, Xin
author_facet Paul, Robin
Wang, Jian
Reilly, Colleen
Sioson, Edgar
Patel, Jaimin
Matt, Gavriel
Acić, Aleksandar
Zhou, Xin
author_sort Paul, Robin
collection PubMed
description SUMMARY: ProteinPaint BAM track (ppBAM) is designed to assist variant review for cancer research and clinical genomics. With performant server-side computing and rendering, ppBAM supports on-the-fly variant genotyping of thousands of reads using Smith–Waterman alignment. To better visualize support for complex variants, reads are realigned against the mutated reference sequence using ClustalO. ppBAM also supports the BAM slicing API of the NCI Genomic Data Commons (GDC) portal, letting researchers conveniently examine genomic details of vast amounts of cancer sequencing data and reinterpret variant calls. AVAILABILITY AND IMPLEMENTATION: BAM track examples, tutorial, and GDC file access links are available at https://proteinpaint.stjude.org/bam/. Source code is available at https://github.com/stjude/proteinpaint.
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spelling pubmed-101828502023-05-14 ppBAM: ProteinPaint BAM track for read alignment visualization and variant genotyping Paul, Robin Wang, Jian Reilly, Colleen Sioson, Edgar Patel, Jaimin Matt, Gavriel Acić, Aleksandar Zhou, Xin Bioinformatics Applications Note SUMMARY: ProteinPaint BAM track (ppBAM) is designed to assist variant review for cancer research and clinical genomics. With performant server-side computing and rendering, ppBAM supports on-the-fly variant genotyping of thousands of reads using Smith–Waterman alignment. To better visualize support for complex variants, reads are realigned against the mutated reference sequence using ClustalO. ppBAM also supports the BAM slicing API of the NCI Genomic Data Commons (GDC) portal, letting researchers conveniently examine genomic details of vast amounts of cancer sequencing data and reinterpret variant calls. AVAILABILITY AND IMPLEMENTATION: BAM track examples, tutorial, and GDC file access links are available at https://proteinpaint.stjude.org/bam/. Source code is available at https://github.com/stjude/proteinpaint. Oxford University Press 2023-05-04 /pmc/articles/PMC10182850/ /pubmed/37140547 http://dx.doi.org/10.1093/bioinformatics/btad300 Text en © The Author(s) 2023. Published by Oxford University Press. https://creativecommons.org/licenses/by/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Applications Note
Paul, Robin
Wang, Jian
Reilly, Colleen
Sioson, Edgar
Patel, Jaimin
Matt, Gavriel
Acić, Aleksandar
Zhou, Xin
ppBAM: ProteinPaint BAM track for read alignment visualization and variant genotyping
title ppBAM: ProteinPaint BAM track for read alignment visualization and variant genotyping
title_full ppBAM: ProteinPaint BAM track for read alignment visualization and variant genotyping
title_fullStr ppBAM: ProteinPaint BAM track for read alignment visualization and variant genotyping
title_full_unstemmed ppBAM: ProteinPaint BAM track for read alignment visualization and variant genotyping
title_short ppBAM: ProteinPaint BAM track for read alignment visualization and variant genotyping
title_sort ppbam: proteinpaint bam track for read alignment visualization and variant genotyping
topic Applications Note
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10182850/
https://www.ncbi.nlm.nih.gov/pubmed/37140547
http://dx.doi.org/10.1093/bioinformatics/btad300
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