Study: JGAS00000000180

Identifier

AccessionJGAS00000000180

Description

TitleNanopore whole-genome sequencing of sample RK067 and variant-call data (SNVs and intermediate-sized deletions) of 174 Japanese samples.
AbstractWe performed whole-genome sequencing of a human samples using Oxford Nanopore MinION sequencer, so as to be able to establish methods to detect and identify structural variations in Japanese individuals. Intermediate-sized deletions were identified from 174 Japanese samples’ short-reads whole-genome sequencing data. Variant call information of these intermediate-sized deletions were joined with SNVs identified in a previous study (Fujimoto, A et al., Nat Genet, 2016) to create a reference panel for use in imputation.
LinkDRA008482
Study Type
Study TypeWhole Genome Sequencing

Grant

TitleDevelopment of advanced data analysis methods for genome sequencing
AgencyJapan Agency for Medical Research and Development (AMED)
Grant ID18km0405207h0003

Publication

PubMed ID31340865
Publication Statuspublished
DB TypePUBMED

Study Attribute

NBDC Numberhum0182
Registration date2019-05-17
Submitting organizationKyoto University, Graduate School of Medicine
Principal InvestigatorAkihiro Fujimoto
Molecular Data TypeWhole Genome Sequencing
PlatformMinION
VendorOxford Nanopore
Comment
Primary PhenotypeHealthy control sample
Dataset
Accession Title Dataset type Data objects Policy
JGAD00000000261 Genomic DNA from whole blood of human sample RK067 and variant-call data (SNVs and intermediate-sized deletions) of 174 Japanese samples. Whole genome sequencing 1 JGAP00000000001