Japanese ENcyclopedia of GEnetic associations libraRy

Other data

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■Allele frequencies of the variants identified by WGS of the Japanese population

ID DATA Description Citation PMID Size Updated Counts Download
1 Allele frequencies of the variants chromosomal positions (hg19), reference alleles, alternative alleles, alternative allele frequencies of the variants identified by WGS of the Japanese population (n = 1026). Deep whole-genome sequencing reveals recent selection signatures linked to evolution and disease risk of Japanese 29691385 102100897 2018/4/24 863

■MOPline SV calls & MOPline sample data

ID DATA Description Citation PMID Size Updated Counts Download
1 1KG-SV SVs detected using MOPline-7t from 414 high coverage whole genome sequencing (WGS) data (99 CEU, 103 CHB, 104 JPT, and 108 YRI samples) from the 1000 Genomes Project (1KG). Detection of trait-associated structural variations using short-read sequencing 37388916 84049920 2022/4/1 86
2 BBJ-SV SVs detected using MOPline-7t from 3,258 high coverage WGS data from BioBank Japan (BBJ). SVs in the file are filtered and annotated for their overlapping genes. Genotype data for each individual have been omitted to protect personal information. Detection of trait-associated structural variations using short-read sequencing 37388916 4526080 2022/4/1 137
3 MOPline sample data A sample dataset for testing the excecution of MOPline.

Sample_data.tar.gz

2.82GB 2022/4/1
4 MOPline sample data output An output dataset generated with the Sample_data using MOPline-7t.

Sample_data_output.tar.gz

567MB 2022/4/1
5 MOPline singularity sif file singularity image file for executing MOPline and 10 SV detection tools, except for MELT and INSurVeylor.

mopline.sif

1.7GB 2025/2/4

■TRsv data

ID DATA Description Citation PMID Size Updated Counts Download
1 TRsv singularity sif file singularity image file for executing TRsv.

TRsv-v1.1.2.sif

1.28GB 2025/5/12

■JEWEL WGS supplementary data

ID DATA Description Citation PMID Size Updated Counts Download
1 Allele Frequency Data site VCF of variants in JEWEL Decoding triancestral origins, archaic introgression, and natural selection in the Japanese population by whole-genome sequencing 38630824 3092857619 2024/5/23 102
2 IBDMix data Introgressed regions called by IBDMix Decoding triancestral origins, archaic introgression, and natural selection in the Japanese population by whole-genome sequencing 38630824 33867 2024/5/23 26
3 Sprime data Introgressed regions called by Sprime Decoding triancestral origins, archaic introgression, and natural selection in the Japanese population by whole-genome sequencing 38630824 5533872 2024/5/23 7
4 iHS data normalized iHS score and P values for variants in JEWEL Decoding triancestral origins, archaic introgression, and natural selection in the Japanese population by whole-genome sequencing 38630824 211530661 2024/5/23 10
5 FastSMC data DRC50 statistics Decoding triancestral origins, archaic introgression, and natural selection in the Japanese population by whole-genome sequencing 38630824 2727854 2024/5/23 8