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Benchmarking bulk and single-cell variant-calling approaches on Chromium scRNA-seq and scATAC-seq libraries.

Genome research - 20 Sept 2024

Wiens Matthew, Farahani Hossein, Scott R Wilder, Underhill T Michael, Bashashati Ali

Abstract excerpt

Single-cell sequencing methodologies such as scRNA-seq and scATAC-seq have become widespread and effective tools to interrogate tissue composition. Increasingly, variant callers are being applied to these methodologies to resolve the genetic heterogeneity of a sample, especially in the case of detecting the clonal architecture of a tumor. Typically, traditional bulk DNA variant callers are applied to the pooled...

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PMID: 39147582
DOI: 10.1101/gr.277066.122
PMCID: PMC11444184

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