Article

Long-read sequencing and structural variant characterization in 1,019 samples from the 1000 Genomes Project

2024-04-20

Abstract excerpt

Structural variants (SVs) contribute significantly to human genetic diversity and disease 1–4 . Previously, SVs have remained incompletely resolved by population genomics, with short-read sequencing facing limitations in capturing the whole spectrum of SVs at nucleotide resolution 5–7 . Here we leveraged nanopore sequencing 8 to construct an intermediate coverage resource of 1,019 long-read genomes sampled with...

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Literature Corpus work: d13989cb-4883-54ca-8951-ef7f58e6ebfa
DOI: 10.1101/2024.04.18.590093

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