Published on
Apr 15, 2025
Imputation of structural variants using a multi-ancestry long-read sequencing panel enables identification of disease ...
Human disease associations of single nucleotide variants (SNVs) and short insertions and deletions are routinely identified in genome-wide association studies (GWASs)1,2. By contrast, large structural variants (SVs) of >50 base pairs (bp) are typically …
Source:
eLife
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Pending
