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Article

SVJedi-graph: improving the genotyping of close and overlapping structural variants with long reads using a variation graph.

Bioinformatics (Oxford, England) - 30 Jun 2023

Romain Sandra, Lemaitre Claire

Abstract excerpt

MOTIVATION: Structural variation (SV) is a class of genetic diversity whose importance is increasingly revealed by genome resequencing, especially with long-read technologies. One crucial problem when analyzing and comparing SVs in several individuals is their accurate genotyping, that is determining whether a described SV is present or absent in one sequenced individual, and if present, in how many copies. There...

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PMID: 37387169
DOI: 10.1093/bioinformatics/btad237
PMCID: PMC10311344

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