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nstd165 (Bhaskaran et al. 2019)

Organism:
Human
Study Type:
Collection
Submitter:
Khyati Chandratre
Submitter URL:
https://dbbrca-chinese.fhs.um.edu.mo/index.php
Description:
Pathogenic germline mutations in BRCA1 and BRCA2 disrupt their functions and lead to genome instability. BRCA mutations have been extensively screened in Caucasian populations; however, recent studies suggest BRCA mutations can be ethnic-specific, raising the question whether an ethnicity-based BRCA mutation information system needs to be developed for ethnic populations. In this study, we used Chinese population as a model to test ethnicity-specific BRCA mutations. We performed multi-layered analyses to determine the similarities and differences of BRCA variation between Chinese and non-Chinese ethnic populations and observed substantial differences, indicating that the current Caucasian population-based BRCA data is not adequate to represent the BRCA status in non-Caucasian populations. See Variant Summary counts for nstd165 in dbVar Variant Summary.
Publication(s):
Bhaskaran et al. 2019

Detailed Information: Download 7 Variant Regions, Download 7 Variant Calls, Download Both, FTP

Variant Summary

Assembly used for analysis:
Remapped: GRCh38.p12 (hg38)
Submitted: GRCh37 (hg19)

Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
NC_000013.11Chr1344RemappedNC_000013.11
NC_000017.11Chr1733RemappedNC_000017.11
Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
NC_000013.10Chr1344SubmittedNC_000013.10
NC_000017.10Chr1733SubmittedNC_000017.10

Variant Region remap statusVariant Call remap status
Sequence IDChrVariant Regions on sourcePerfectGoodPassFailMultVariant Calls on sourcePerfectGoodPassFailMult
NC_000013.10Chr13440000440000
NC_000017.10Chr17330000330000

Samplesets

Number of Samplesets: 1

Name:
CHN
Sampleset Type:
Case
Description:
This sample set includes data from Chinese individuals.
Size:
0 (sample data not available)
Organisms:
Homo sapiens
Sampleset Phenotype(s):
None reported
Sex:
Unknown

Experimental Details

Experiment IDTypeMethodAnalysisNumber of Variant Calls
1DiscoveryCuratedCurated7

Validations

No validation data were submitted for this study.

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