Literature DB >> 27153727

VariantBam: filtering and profiling of next-generational sequencing data using region-specific rules.

Jeremiah Wala1, Cheng-Zhong Zhang2, Matthew Meyerson3, Rameen Beroukhim3.   

Abstract

UNLABELLED: We developed VariantBam, a C ++ read filtering and profiling tool for use with BAM, CRAM and SAM sequencing files. VariantBam provides a flexible framework for extracting sequencing reads or read-pairs that satisfy combinations of rules, defined by any number of genomic intervals or variant sites. We have implemented filters based on alignment data, sequence motifs, regional coverage and base quality. For example, VariantBam achieved a median size reduction ratio of 3.1:1 when applied to 10 lung cancer whole genome BAMs by removing large tags and selecting for only high-quality variant-supporting reads and reads matching a large dictionary of sequence motifs. Thus VariantBam enables efficient storage of sequencing data while preserving the most relevant information for downstream analysis.
AVAILABILITY AND IMPLEMENTATION: VariantBam and full documentation are available at github.com/jwalabroad/VariantBam CONTACT: rameen@broadinstitute.org SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
© The Author 2016. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

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Year:  2016        PMID: 27153727      PMCID: PMC4920121          DOI: 10.1093/bioinformatics/btw111

Source DB:  PubMed          Journal:  Bioinformatics        ISSN: 1367-4803            Impact factor:   6.937


  6 in total

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6.  Characterizing and measuring bias in sequence data.

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  6 in total
  12 in total

1.  SeqLib: a C ++ API for rapid BAM manipulation, sequence alignment and sequence assembly.

Authors:  Jeremiah Wala; Rameen Beroukhim
Journal:  Bioinformatics       Date:  2017-03-01       Impact factor: 6.937

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7.  A pooled CRISPR/AsCpf1 screen using paired gRNAs to induce genomic deletions in Chinese hamster ovary cells.

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8.  Divergent evolutionary trajectories following speciation in two ectoparasitic honey bee mites.

Authors:  Maeva A Techer; Rahul V Rane; Miguel L Grau; John M K Roberts; Shawn T Sullivan; Ivan Liachko; Anna K Childers; Jay D Evans; Alexander S Mikheyev
Journal:  Commun Biol       Date:  2019-10-01

9.  Can we use it? On the utility of de novo and reference-based assembly of Nanopore data for plant plastome sequencing.

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10.  Contributions of cis- and trans-Regulatory Evolution to Transcriptomic Divergence across Populations in the Drosophila mojavensis Larval Brain.

Authors:  Kyle M Benowitz; Joshua M Coleman; Carson W Allan; Luciano M Matzkin
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