Article

VISTA: An integrated framework for structural variant discovery

2023-08-15

Abstract excerpt

Structural variation (SV), refers to insertions, deletions, inversions, and duplications in human genomes. With advances in whole genome sequencing (WGS) technologies, a plethora of SV detection methods have been developed. However, dissecting SVs from WGS data remains a challenge, with the majority of SV detection methods prone to a high false-positive rate, and no existing method able to precisely detect a full...

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Literature Corpus work: 98b92c83-5d3f-59f7-b3f2-1793fe57784a
DOI: 10.1101/2023.08.11.553053

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