ID

45421

Beschrijving

Principal Investigator: Winnie S. Liang, PhD, Translational Genomics Research Institute, Phoenix, AZ, USA MeSH: Chromosome Breakpoints,Neoplasms https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000646 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.

Link

dbGaP-study=phs000646

Trefwoorden

  1. 25-11-22 25-11-22 - Chiara Middel
Houder van rechten

Winnie S. Liang, PhD, Translational Genomics Research Institute, Phoenix, AZ, USA

Geüploaded op

25 november 2022

DOI

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Licentie

Creative Commons BY 4.0

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dbGaP phs000646 Breakpoint Detection Using Long Insert Whole Genome Sequencing

This data table contains subject IDs, consent group, and research type.

pht003434
Beschrijving

pht003434

Alias
UMLS CUI [1,1]
C3846158
Subject ID
Beschrijving

SUBJID

Datatype

string

Alias
UMLS CUI [1,1]
C2348585
Consent group as determined by DAC
Beschrijving

CONSENT

Datatype

text

Alias
UMLS CUI [1,1]
C0021430
Type of research subject data was used for
Beschrijving

RESEARCH_TYPE

Datatype

string

Alias
UMLS CUI [1,1]
C0332307
UMLS CUI [1,2]
C0035168
UMLS CUI [1,3]
C1524063
UMLS CUI [1,4]
C1511726

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This data table contains subject IDs, consent group, and research type.

Name
Type
Description | Question | Decode (Coded Value)
Datatype
Alias
Item Group
pht003434
C3846158 (UMLS CUI [1,1])
SUBJID
Item
Subject ID
string
C2348585 (UMLS CUI [1,1])
Item
Consent group as determined by DAC
text
C0021430 (UMLS CUI [1,1])
Code List
Consent group as determined by DAC
CL Item
General Research Use (MDS) (GRU-MDS) (1)
C0021430 (UMLS CUI [1,1])
C0242481 (UMLS CUI [1,2])
RESEARCH_TYPE
Item
Type of research subject data was used for
string
C0332307 (UMLS CUI [1,1])
C0035168 (UMLS CUI [1,2])
C1524063 (UMLS CUI [1,3])
C1511726 (UMLS CUI [1,4])

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