Litcius/Paper detail

Bam-readcount - rapid generation of basepair-resolution sequence metrics

Ajay Khanna, David E. Larson, Sridhar Nonavinkere Srivatsan, Matthew Mosior, Travis Abbott, Susanna Kiwala, Timothy J. Ley, Eric J. Duncavage, Matthew J. Walter, Jason Walker, Obi L. Griffith, Malachi Griffith, Christopher A. Miller

2022The Journal of Open Source Software141 citationsDOIOpen Access PDF

Abstract

Bam-readcount is a utility for generating low-level information about sequencing data at specific nucleotide positions. Originally designed to help filter genomic mutation calls, the metrics it outputs are useful as input for variant detection tools and for resolving ambiguity between variant callers (Koboldt et al., 2013a; In addition, it has found broad applicability in diverse fields including tumor evolution, single-cell genomics, climate change ecology, and tracking community spread of SARS-CoV-2 (Miller et al., 2018;

Topics & Concepts

AmbiguityGenomicsSequence (biology)DNA sequencingComputational biologyComputer scienceFilter (signal processing)BiologyGeneticsGenomeGeneComputer visionProgramming languageCancer Genomics and DiagnosticsGenomics and Phylogenetic StudiesSingle-cell and spatial transcriptomics