Article

Blackbird: structural variant detection using synthetic and low-coverage long-reads

2024-11-18

Abstract excerpt

Recent benchmarks of structural variant (SV) detection tools revealed that the majority of human genome structural variations (SVs), especially the medium-range (50-10,000 bp) SVs cannot be resolved with short-read sequencing, but long-read SV callers achieve great results on the same datasets. While improvements have been made, high-coverage long-read sequencing is associated with higher costs and input DNA requi...

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Literature Corpus work: a95f335b-bc4f-5929-beb5-8ed638372e44
DOI: 10.1101/2024.11.17.624011

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