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Sequencing the gaps: dark genomic regions persist in CHM13 despite long-read advances

2025-05-28

Abstract excerpt

Comprehensive genomic analysis is essential for advancing our understanding of human genetics and disease. However, short-read sequencing technologies are inherently limited in their ability to resolve highly repetitive, structurally complex, and low-mappability genomic regions, previously coined as “dark” regions. Long-read sequencing technologies, such as PacBio and Oxford Nanopore Technologies (ONT), offer impr...

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Literature Corpus work
6cde84cc-e9c9-513d-a0b9-4c9d8186f965
DOI
10.1101/2025.05.23.655776
Open publication

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Sequencing the gaps: dark genomic regions persist in CHM13 despite long-read advancesDOI 10.1101/2025.05.23.655776
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