Article

SVarp: pangenome-based structural variant discovery

2024-02-18

Abstract excerpt

The linear human reference genome that we use today does not represent the haplotypic diversity of the global human population. This raises bias in genomic read alignment and limits our ability to call large structural variations (SV), especially at highly polymorphic loci. Thus, many SV alleles remain unresolved. Recent efforts to transition to a graph-based reference genome resulted in the generation of the firs...

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Literature Corpus work: 2ce3f078-bd2b-58c7-a184-3b460d9d5254
DOI: 10.1101/2024.02.18.580171

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