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Article

Pangenome graphs improve the analysis of structural variants in rare genetic diseases.

Nature communications - 22 Jan 2024

Groza Cristian, Schwendinger-Schreck Carl, Cheung Warren A, Farrow Emily G, Thiffault Isabelle, Lake Juniper, Rizzo William B, Evrony Gilad, Curran Tom, Bourque Guillaume, Pastinen Tomi

Abstract excerpt

Rare DNA alterations that cause heritable diseases are only partially resolvable by clinical next-generation sequencing due to the difficulty of detecting structural variation (SV) in all genomic contexts. Long-read, high fidelity genome sequencing (HiFi-GS) detects SVs with increased sensitivity and enables assembling personal and graph genomes. We leverage standard reference genomes, public assemblies (n = 94)...

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Identifiers

PMID: 38253606
DOI: 10.1038/s41467-024-44980-2
PMCID: PMC10803329

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KMT2E
MAF

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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