Article

Small allelic variants are a source of ancestral bias in structural variant breakpoint placement

2023-06-26

Abstract excerpt

High-quality genome assemblies and sophisticated algorithms have increased sensitivity for a wide range of variant types, and breakpoint accuracy for structural variants (SVs, ≥ 50 bp) has improved to near basepair precision. Despite these advances, many SVs in unique regions of the genome are subject to systematic bias that affects breakpoint location. This ambiguity leads to less accurate variant comparisons acr...

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Literature Corpus work: 19199710-731e-5b1e-936f-edc26ef8a4a9
DOI: 10.1101/2023.06.25.546295

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