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

ABSTRACT:

Motivation

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 requirements. To decrease the cost one can lower the sequence coverage, but the current long-read SV callers perform poorly with coverage below 10×. Synthetic long-read (SLR) technologies hold great potential for structural variant (SV) detection, although utilizing their long-range information for events smaller than 50 kbp has been challenging.

Results

In th

SUBMITTER: Meleshko D 

PROVIDER: S-EPMC11601376 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature