ID

45826

Description

Principal Investigator: Andrea H. Bild, PhD, University of Utah, Salt Lake City, UT, USA MeSH: Breast Neoplasms https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001044 We sought to identify genomic variants that differed between individuals who developed familial breast cancer and individuals who had a family history of breast cancer but who had not developed breast cancer. We aggregated these data at the pathway level to identify pathways that play a role in familial breast cancer development. We profiled peripheral blood cells, extracted DNA, and sequenced the DNA using exome-capture sequencing to identify genomic variants in these samples. For 34 of the 35 samples, we also profiled peripheral blood using Affymetrix Human Exon 1.0 ST Array microarrays. Those data can be found in Gene Expression Omnibus under accession identifier GSE47862.

Lien

dbGaP study = phs001044

Mots-clés

  1. 29.07.23 29.07.23 - Simon Heim
Détendeur de droits

Andrea H. Bild, PhD, University of Utah, Salt Lake City, UT, USA

Téléchargé le

29. Juli 2023

DOI

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Licence

Creative Commons BY 4.0

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dbGaP phs001044 Breast Cancer Risk Pathways

This data table contains a 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.

pht005273
Description

pht005273

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

SUBJECT_ID

Type de données

string

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

SAMPLE_ID

Type de données

string

Alias
UMLS CUI [1,1]
C1299222
Sample use. Seq_DNA_SNP_CNV: SNP and CNV genotypes derived from sequence data; Seq_DNA_WholeExome: Whole exome sequencing
Description

SAMPLE_USE

Type de données

text

Alias
UMLS CUI [1,1]
C2347026
UMLS CUI [1,2]
C1524063
UMLS CUI [1,3]
C0752046
UMLS CUI [1,4]
C3640077

Similar models

This data table contains a 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
Type
Description | Question | Decode (Coded Value)
Type de données
Alias
Item Group
pht005273
C3846158 (UMLS CUI [1,1])
SUBJECT_ID
Item
Subject ID
string
C2348585 (UMLS CUI [1,1])
SAMPLE_ID
Item
Sample ID
string
C1299222 (UMLS CUI [1,1])
SAMPLE_USE
Item
Sample use. Seq_DNA_SNP_CNV: SNP and CNV genotypes derived from sequence data; Seq_DNA_WholeExome: Whole exome sequencing
text
C2347026 (UMLS CUI [1,1])
C1524063 (UMLS CUI [1,2])
C0752046 (UMLS CUI [1,3])
C3640077 (UMLS CUI [1,4])

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