ID

45980

Description

Principal Investigator: Hanlee Ji, MD, Stanford University School of Medicine, Stanford, CA, USA MeSH: Colorectal Neoplasms https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000898 We experimentally determined Mb-scale haplotypes from germline and cancer genome sequencing. Using a microfluidic process that partitions long DNA fragments into hundreds of thousands of barcoded reactions, we determined haplotype blocks from matched colorectal cancer samples in the delineation of haplotypes of allelic imbalances and other genomic instability events.

Link

dbGaP study=phs000898

Keywords

  1. 4/2/24 4/2/24 - Madita Rudolph
Copyright Holder

Hanlee Ji, MD, Stanford University School of Medicine, Stanford, CA, USA

Uploaded on

April 2, 2024

DOI

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License

Creative Commons BY 4.0

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dbGaP phs000898 Megabase-scale Haplotyped Genomic Analysis of Normal and Cancer Genomes

Subject ID, consent group, and affection status of participants with cancer and involved in the "Megabase-scale Haplotyped Genomic Analysis of Normal and Cancer Genomes" project.

pht004641
Description

pht004641

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

SUBJECT_ID

Data type

string

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

CONSENT

Data type

text

Alias
UMLS CUI [1,1]
C0021430
UMLS CUI [1,2]
C0441833
Indicates presence or absence of disease in subject
Description

AFFECTION_STATUS

Data type

text

Alias
UMLS CUI [1,1]
C0012634
UMLS CUI [1,2]
C0150312
UMLS CUI [1,3]
C0332197

Similar models

Subject ID, consent group, and affection status of participants with cancer and involved in the "Megabase-scale Haplotyped Genomic Analysis of Normal and Cancer Genomes" project.

Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
pht004641
C3846158 (UMLS CUI [1,1])
SUBJECT_ID
Item
Subject ID
string
C2348585 (UMLS CUI [1,1])
Item
Consent group as determined by DAC
text
C0021430 (UMLS CUI [1,1])
C0441833 (UMLS CUI [1,2])
Code List
Consent group as determined by DAC
CL Item
Health/Medical/Biomedical (PUB, COL, MDS) (HMB-PUB-COL-MDS) (2)
Item
Indicates presence or absence of disease in subject
text
C0012634 (UMLS CUI [1,1])
C0150312 (UMLS CUI [1,2])
C0332197 (UMLS CUI [1,3])
Code List
Indicates presence or absence of disease in subject
CL Item
No disease (1)
CL Item
Disease (2)
CL Item
Other (3)

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