Article

Modeling structural variations sequencing information to address missing heritability and enhance risk prediction

2025-08-08

Abstract excerpt

Missing heritability remains a significant challenge in genome-wide studies focused on single nucleotide polymorphisms (SNPs) when analyzing the genetic basis of complex traits. Structural variations (SVs), which span broader genomic regions and often exert larger functional impacts than SNPs, hold promise for capturing this heritability. Although graph-based pangenomes have advanced SV detection and association a...

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Literature Corpus work: a03e5a7e-4a5c-5953-89fb-684efdcd4ed8
DOI: 10.1101/2025.08.07.669060

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