NBDC Research ID: hum0114.v2

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SUMMARY

Aims: Analysis of statistical genetics using cell line genotype data of Japanese ancestry

Methods: Genome-wide association study for psoriasis, Target capture sequence for HLA regioin

Participants/Materials: Cell line genotype data of Japanese ancestry

 

Dataset IDType of DataCriteriaRelease Date
hum0114.v1.gwas.v1 GWAS for psoriasis Unrestricted-access 2017/12/18
DRA007411 NGS (Target Capture) Unrestricted-access 2019/04/12

*Release Note

*When the research results including the data which were downloaded from NHA/DRA, are published or presented somewhere, the data user must refer the papers which are related to the data, or include in the acknowledgment. Learn more

 

MOLECULAR DATA

hum0114.v1.gwas.v1

Participants/Materials

282 psoriasis patients (ICD10: L400)

426 healthy controls

Targets genome wide SNPs
Target Loci for Capture Methods -
Platform Illumina [HumanCoreExome BeadChip]
Library Source DNA extracted from B cell lines of Japanese ancestry
Cell Lines -
Reagents (Kit, Version) Illumina HumanCoreExome BeadChip kit
Genotype Call Methods (software) GenCall software(GenomeStudio)
Filtering Methods sample call rate < 0.99, SNP call rate < 0.99, HWE-P < 1x10^-7
Marker Number (after QC) 255,632 SNPs (on autosomal chromosomes、hg19)
NBDC Dataset ID

hum0114.v1.gwas.v1

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Dictionary file

Total Data Volume 6 MB (txt.zip)
Comments (Policies) NBDC policy

 

DRA007411

Participants/Materials Cell lines of the Japanese population: 560 samples
Targets Target Capture
Target Loci for Capture Methods

HLA region

(HLA-A, -B, -C, -DMA, -DMB, -DOA, -DOB, -DPA1, -DPB1, -DQA1, -DQB1, -DRA, -DRB1, -DRB2, -DRB3, -DRB4, -DRB5, -DRB6, -DRB7, -DRB8, -DRB9, -E, -F, -G, -H, -J, -L, -V, MICA, MICB, TAP1, TAP2)

Platform Illumina [MiSeq]
Library Source DNA extracted from cell lines of Japanese population
Cell Lines -
Library Construction (kit name) KAPA Hyper Prep Plus, SeqCap EZ choice
Fragmentation Methods Enzymatic fragmentation
Spot Type Paired-end
Read Length (without Barcodes, Adaptors, Primers, and Linkers) 602 bp
DDBJ Sequence Read Archive ID DRA007411
Total Data Volume about 215 GB (fastq)
Comments (Policies) NBDC policy

 

DATA PROVIDER

Principal Investigator: Yukinori Okada

Affiliation: Department of Statistical Genetics, Osaka University Graduate School of Medicine

Project / Group Name: -

Funds / Grants (Research Project Number):

NameTitleProject Number
KAKENHI Grant-in-Aid for Scientific Research on Innovative Areas Cancer drug discovery based on statistical genetics and big data 15H05911
KAKENHI Grant-in-Aid for Young Scientists (A) Identification of autoimmune disease biomarkers using HLA imputation 15H05670

 

PUBLICATIONS

TitleDOIDataset ID
1 Variants at HLA-A, HLA-C, and HLA-DQB1 confer risk of psoriasis vulgaris in Japanese doi: 10.1016/j.jid.2017.10.001 hum0114.v1.gwas.v1
2 Genetic and phenotypic landscape of the major histocompatibilty complex region in the Japanese population. doi: 10.1038/s41588-018-0336-0 DRA007411