Breakpoint detection using long insert whole genome sequencing

Study ID Alternative Stable ID Type
phs000646 Case Set

Study Description

In this study, we hypothesize that shallow long insert whole genome sequencing (LI-WGS) increases our power for detecting breakpoints compared to shallow short insert WGS. We performed a priori analyses to demonstrate the benefits of LI-WGS, developed a long insert library preparation protocol based off Illumina's protocol, and compared LI-WGS against short insert WGS on test samples. We then used long insert WGS to identify translocations and copy number changes in tumor and germline samples collected from cancer patients with different malignancies.

Archive Link Archive Accession
dbGaP phs000646

Who archives the data?

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