hum0331-v1Release info

Construction of control data for the promotion of genomic medicine for cancers and rare diseases

Aims

Whole genome sequencing is being promoted for better medical care of rare diseases and cancers. For these disease genome analyses, whole genome sequencing (WGS) analysis data of the healthy control group is necessary. We conducted WGS analysis of healthy individuals for cancers and rare diseases from biobank specimens held by six National Centers (NCs) Biobanks in Japan, taking regional variations into consideration, and construct a genome database of healthy individuals and disease control groups.

Methods

DNA samples that meet the criteria for the study will be shipped from the biobank and subjected to WGS analysis at a contract analysis laboratory. WGS analysis will be performed on a Novaseq6000 sequencer using a PCR-free protocol to obtain a minimum output of 90 Gb. The read data in fastq format obtained from the analysis will be subjected to data analysis (mapping and variant calling) at the principal institute (National Center for Global Health and Medicine), and the data including variant information will be made into a database.

Participants/materials

A total of 9850 DNA samples from healthy individuals (including people with common complex diseases who do not have rare diseases or cancers) that can be utilized as controls for cancers and rare diseases studies. 560 were excluded after QC.

URL

• https://ncbiobank.org/en/ (opens in a new tab)
• https://ncbiobank.org/cbs/en/index.html (opens in a new tab)

Principal investigator

Katsushi Tokunaga

Affiliation

National Center for Global Health and Medicine Genome Medical Science