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

2025-07-11 genetic and genomic medicine Title + abstract only

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BackgroundDespite 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. MethodsWe applied long-read sequencing (LRS) to 40 individuals from 33 previously undiagnosed Korean families. De novo assemblies were integrated into a graph-based pangenome workflow, enabling sensitive detection of single-nucleotide, structural, and tandem-repea...

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

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