Article
A high-resolution human pangenome structural variant resource for improved disease association
2026-08-25
Abstract excerpt
Long-read sequencing (LRS) and diploid genome assembly have enabled nearly complete structural variant (SV) discovery. Using 293 nearly complete genomes, we characterize the full spectrum of genetic variation and show that while 99% of the variants between any two genomes are single base-pair substitutions, 88% of the euchromatic variant base pairs are SVs, including insertions, deletions, duplications, and invers...
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Identifiers and source
- Literature Corpus work
- 722f6f30-002e-53ad-b488-f925a96bceaf
- DOI
- 10.64898/2026.08.21.26361050