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Following a change to our organizational structure effective April 1, 2026, this division has been renamed from the "Database Center for Life Science, Joint Support-Center for Data Science Research" to the "Database Division for Life Science (DBCLS), BioData Science Initiative (BSI), National Institute of Genetics (NIG)". Where the former name still appears in the guidelines, please read it as the new name.

Research ID

hum0015-v1Release info

This page is a past version (v1). The latest version is v3.
Latest version (v3)

Research title

Construction of the Whole-genome Reference Panel of 3552 Japanese Individuals

Research overview

Aims
Construction of the whole-genome reference panel of Japanese individuals by deep whole-genome sequencing
Methods
DNA was extracted from the blood samples of the subjects. We conducted whole-genome sequencing by using HiSeq 2500. After genotype calling for each individual, genotype frequencies for 1070 individuals were pooled, and allele frequencies were calculated. We selected autosomal SNPs (minor allele frequency >5%) that matched known SNPs in dbSNP138.
Participants/materials
Selected 1070 individuals from the adult (age ≥ 20) cohort participants who gave the informed consent at the places for health survey in Miyagi prefecture, by removing relatives.

Datasets

The list is the one this version published; each dataset's content is shown as it is now.

CartDataset IDType of dataAnalysis methodAccess criteriaDate published
NHA000002Frequencies of known autosomal SNPs whose minor allele frequencies are more than 5% in 1070 participants.
  • WGS
Unrestricted-access2014-10-14

Data provider

Principal investigator
Masayuki Yamamoto
Affiliation
Department of Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University

Research projects

NameURL
Tohoku Medical Megabank Organization

Grants

NameTitleProject number
Ministry of Education, Culture, Sports, Science and TechnologyJapan
N/A
N/A

Related publications

TitleDOIDataset ID
Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals