ID

45421

Description

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.

Lien

dbGaP-study=phs000646

Mots-clés

  1. 25/11/2022 25/11/2022 - Chiara Middel
Détendeur de droits

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

Téléchargé le

25 novembre 2022

DOI

Pour une demande vous connecter.

Licence

Creative Commons BY 4.0

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dbGaP phs000646 Breakpoint Detection Using Long Insert Whole Genome Sequencing

This subject phenotype table includes age at biopsy and sex.

pht003436
Description

pht003436

Alias
UMLS CUI [1,1]
C3846158
De-identified Subject ID
Description

SUBJID

Type de données

string

Alias
UMLS CUI [1,1]
C4684638
UMLS CUI [1,2]
C2348585
Age at biopsy
Description

AGE

Type de données

text

Unités de mesure
  • years
Alias
UMLS CUI [1,1]
C0001779
UMLS CUI [1,2]
C0011008
UMLS CUI [1,3]
C0005558
years
Gender of participant
Description

SEX

Type de données

string

Alias
UMLS CUI [1,1]
C0079399

Similar models

This subject phenotype table includes age at biopsy and sex.

Name
Type
Description | Question | Decode (Coded Value)
Type de données
Alias
Item Group
pht003436
C3846158 (UMLS CUI [1,1])
SUBJID
Item
De-identified Subject ID
string
C4684638 (UMLS CUI [1,1])
C2348585 (UMLS CUI [1,2])
AGE
Item
Age at biopsy
text
C0001779 (UMLS CUI [1,1])
C0011008 (UMLS CUI [1,2])
C0005558 (UMLS CUI [1,3])
Item
Gender of participant
string
C0079399 (UMLS CUI [1,1])
Code List
Gender of participant
CL Item
Female (F)
C0086287 (UMLS CUI [1,1])
CL Item
Male (M)
C0086582 (UMLS CUI [1,1])
CL Item
Unknown (UNK)
CL Item
Not applicable (NA)
C1272460 (UMLS CUI [1,1])

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