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Discovering single nucleotide variants and indels from bulk and single-cell ATAC-seq.

Nucleic acids research - 20 Aug 2021

Massarat Arya R, Sen Arko, Jaureguy Jeff, Tyndale Sélène T, Fu Yi, Erikson Galina, McVicker Graham

Abstract excerpt

Genetic variants and de novo mutations in regulatory regions of the genome are typically discovered by whole-genome sequencing (WGS), however WGS is expensive and most WGS reads come from non-regulatory regions. The Assay for Transposase-Accessible Chromatin (ATAC-seq) generates reads from regulatory sequences and could potentially be used as a low-cost 'capture' method for regulatory variant discovery, but its...

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Identifiers

PMID: 34313779
DOI: 10.1093/nar/gkab621
PMCID: PMC8373110

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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