ID

45421

Beskrivning

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.

Länk

dbGaP-study=phs000646

Nyckelord

  1. 2022-11-25 2022-11-25 - Chiara Middel
Rättsinnehavare

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

Uppladdad den

25 november 2022

DOI

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Licens

Creative Commons BY 4.0

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dbGaP phs000646 Breakpoint Detection Using Long Insert Whole Genome Sequencing

This data table contains mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample use.

pht003435
Beskrivning

pht003435

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

SUBJID

Datatyp

string

Alias
UMLS CUI [1,1]
C2348585
Sample ID
Beskrivning

SAMPLE_ID

Datatyp

string

Alias
UMLS CUI [1,1]
C1299222
Sample Use
Beskrivning

SAMPLE_USE

Datatyp

text

Alias
UMLS CUI [1,1]
C2347026
UMLS CUI [1,2]
C1524063

Similar models

This data table contains mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample use.

Name
Typ
Description | Question | Decode (Coded Value)
Datatyp
Alias
Item Group
pht003435
C3846158 (UMLS CUI [1,1])
SUBJID
Item
Subject ID
string
C2348585 (UMLS CUI [1,1])
SAMPLE_ID
Item
Sample ID
string
C1299222 (UMLS CUI [1,1])
Item
Sample Use
text
C2347026 (UMLS CUI [1,1])
C1524063 (UMLS CUI [1,2])
Code List
Sample Use
CL Item
Whole genome sequencing data available through SRA (WGS_SRA)
C3640076 (UMLS CUI [1,1])

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