Article

Long-read sequencing of trios reveals increased germline and postzygotic mutation rates in repetitive DNA

2025-07-19

Abstract excerpt

Long-read sequencing (LRS) has improved sensitivity to discover variation in complex repetitive regions, assign parent–of–origin, and distinguish de novo germline from postzygotic mutations (PZMs). Most studies have been limited to population genetic surveys or a few families. We applied three orthogonal sequencing technologies—Illumina, Oxford Nanopore Technologies, and Pacific Biosciences—to discover and validat...

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Literature Corpus work: ed8d0ed4-d8a4-5f20-8fdf-8c823cd6d2aa
DOI: 10.1101/2025.07.18.665621

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