Genomics

Dataset Information

42

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.

ORGANISM(S): Homo Sapiens

PROVIDER: phs000646 | dbGaP |

SECONDARY ACCESSION(S): PRJNA215880PRJNA215881

REPOSITORIES: dbGaP

Dataset's files

Source:
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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