Article

scDeepVariant: A population-informed deep learning framework for germline variant calling in single-cell RNA sequencing data

2026-01-02

Abstract excerpt

Single-cell RNA sequencing (scRNA-seq) provides unprecedented resolution of cellular heterogeneity while also capturing information on germline genetic variation, but accurate variant calling remains limited by sparse coverage, allelic imbalance, and RNA-specific artifacts. Existing single-cell methods, including cellSNP, scAllele, and Monopogen, address some of these challenges, yet either suffer from low sensiti...

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Literature Corpus work: 84191709-b136-5b90-be2a-e190f55b9c89
DOI: 10.64898/2025.12.31.696877

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