Article

Pangenome-based identification of cryptic pathogenic variants in undiagnosed rare disease patients

2025-07-11

Abstract excerpt

<h4>Background</h4> Despite widespread implementation of exome and genome sequencing, a substantial proportion of rare disease patients remain undiagnosed due to inherent limitations in detecting structural, repetitive, and regulatory variants. <h4>Methods</h4> We applied long-read sequencing (LRS) to 40 individuals from 33 previously undiagnosed Korean families. De novo assemblies were integrated into a graph-...

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Literature Corpus work: 23d54b1d-ab5f-54f5-9d79-3a53fec1464c
DOI: 10.1101/2025.07.08.25330875

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