Article

Pangenome-aware DeepVariant

2025-06-06

Abstract excerpt

Population-scale genomics information provides valuable prior knowledge for various genomic analyses, especially variant calling. A notable example of such application is the human pangenome reference released by the Human Pangenome Reference Consortium, which has been shown to improve read mapping and structural variant genotyping. In this work, we introduce pangenome-aware DeepVariant, a variant caller that uses...

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Literature Corpus work: fcbf3df7-e42d-5667-9e1b-d437ffd32dad
DOI: 10.1101/2025.06.05.657102

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