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

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

Abstract 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 sensi...

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Bibliographic Details
Main Authors: Cristian Groza, Carl Schwendinger-Schreck, Warren A. Cheung, Emily G. Farrow, Isabelle Thiffault, Juniper Lake, William B. Rizzo, Gilad Evrony, Tom Curran, Guillaume Bourque, Tomi Pastinen
Format: Article
Language:English
Published: Nature Portfolio 2024-01-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-024-44980-2

Internet

https://doi.org/10.1038/s41467-024-44980-2

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