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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...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2023
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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. |
format | Online Article Text |
id | pubmed-10182850 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
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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