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Breakpoint Detection Using Long Insert Whole Genome Sequencing

ABSTRACT:

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.

PROVIDER: phs000646 | dbGaP |

SECONDARY ACCESSION(S): PRJNA215880PRJNA215881

REPOSITORIES: dbGaP

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Dataset's files

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			Action	DRS
	GapExchange_phs000646.v1.p1.xml	Xml
	dbGaPEx2.1.5.xsd	Other
	Study_Report.phs000646.BreakpointDetection.v1.p1.MULTI.pdf	Pdf
	manifest_phs000646.BreakpointDetection.v1.p1.c1.GRU-MDS.pdf	Pdf
	datadict_v2.xsl	Other

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Breakpoint detection using long insert whole genome sequencing

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