Article

Mapping structural variants to rare disease genes using long-read whole genome sequencing and trait-relevant polygenic scores

2024-03-18

Abstract excerpt

<h4>ABSTRACT</h4> Recent studies have revealed the pervasive landscape of rare structural variants (rSVs) present in human genomes. rSVs can have extreme effects on the expression of proximal genes and, in a rare disease context, have been implicated in patient cases where no diagnostic single nucleotide variant (SNV) was found. Approaches for integrating rSVs to date have focused on targeted approaches in known M...

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Literature Corpus work: 5738b6bc-26c8-551e-817d-614037589bc8
DOI: 10.1101/2024.03.15.24304216

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