ID

45826

Descrição

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.

Link

dbGaP study = phs001044

Palavras-chave

  1. 29/07/2023 29/07/2023 - Simon Heim
Titular dos direitos

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

Transferido a

29 de julho de 2023

DOI

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Licença

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
Descrição

pht005273

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

SUBJECT_ID

Tipo de dados

string

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

SAMPLE_ID

Tipo de dados

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
Descrição

SAMPLE_USE

Tipo de dados

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
Tipo
Description | Question | Decode (Coded Value)
Tipo de dados
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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