Article

Pangenome graphs improve the analysis of rare genetic diseases

2023-06-04

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 against reference genomes with increased sensitivity and also enables the assembly of personal and graph genomes. We leveraged standard reference...

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Literature Corpus work: 941e9a17-2228-5502-98af-196d60335d0a
DOI: 10.1101/2023.05.31.23290808

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