Article

Benchmarking long-read variant calling in diploid and polyploid genomes: insights from human and plants

2025-05-17

Abstract excerpt

Accurate characterization of genetic variation is fundamental to genomics. While long-read sequencing technologies promise to resolve complex genomic regions and improve variant detection, their application in complex genomes has not been well validated. Here, we systematically investigate the factors influencing variant calling accuracy using accurate long reads. Using human trio data with known variants to simul...

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Literature Corpus work: 199cbdd0-bad5-58ad-815b-70bad8724e88
DOI: 10.1101/2025.05.14.653922

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