Article

Whole-genome variant detection in long-read sequencing data from ultra-low input patient samples

2025-07-27

Abstract excerpt

Long-read sequencing provides a more complete view of the genome than short-read sequencing, with improved detection of structural variants, tandem repeats, and small variants (single nucleotide variants and insertions and deletions) in difficult-to-map regions. One limitation of long-read sequencing has been high input DNA requirements, with several micrograms required per sample. Here, we evaluate two methods of...

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Literature Corpus work: 92b124c1-e9b1-5736-84c5-b3c7dad7e2a9
DOI: 10.1101/2025.07.25.25332067

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