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Article

SVJedi: genotyping structural variations with long reads.

Bioinformatics (Oxford, England) - 1 Nov 2020

Lecompte Lolita, Peterlongo Pierre, Lavenier Dominique, Lemaitre Claire

Abstract excerpt

MOTIVATION: Studies on structural variants (SVs) are expanding rapidly. As a result, and thanks to third generation sequencing technologies, the number of discovered SVs is increasing, especially in the human genome. At the same time, for several applications such as clinical diagnoses, it is important to genotype newly sequenced individuals on well-defined and characterized SVs. Whereas several SV genotypers...

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PMID: 32437523
DOI: 10.1093/bioinformatics/btaa527

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