東京大学 大阪大学 大学院医学系研究科

SOFTWARE & DATABASE

scLinaX (single-cell Level inactivated X chromosome mapping

Tomofuji Y et al. (2023) Quantification of the escape from X chromosome inactivation with the million cell-scale human single-cell omics datasets reveals heterogeneity of escape across cell types and tissues. bioRxiv https://doi.org/10.1101/2023.10.14.561800.
github page [Link]

The KFc (Knockoff-FINMAP combination) method

Wang QS et al. (2023) Estimating gene-level false discovery probability improves eQTL statistical fine-mapping precision. NAR Genom Bioinform 5:lqad090. [Pubmed]
github page [Link]

JMAG (Japanese Metagenome Assembled Genomes Platform)

JVD (Japanese Virus Database)

Tomofuji Y et al. (2022) Prokaryotic and viral genomes recovered from 787 Japanese gut metagenomes revealed microbial features linked to diets, populations, and diseases. Cell Genom 2:100219 [Pubmed]
JMAG: [Link], JVD: [Link], CRIPR spacer: [Link]

KIRAP (Killer Immunoglobulin-like Receptor variant Analytical Platform)

Sakaue S et al. (2022) Decoding the diversity of killer immunoglobulin-like receptors by deep sequencing and a high-resolution imputation method. Cell Genom 2:100101. [Pubmed]
github page [Link]

OMARU (Omnibus Metagenome-wide Association study with RobUstness)

Kishikawa T et al. (2022) OMARU: a robust and multifaceted pipeline for metagenome-wide association study. NAR Genom Bioinform 4:lqac019. [Pubmed]
github page [Link]

PheWeb.jp (GWAS database of Biobank Japan and cross-population studies)

Sakaue S, Kanai M et al. (2021) A global atlas of genetic associations of 220 deep phenotypes. Nat Genet 53:1415-1424. [Pubmed]
web page [Link]

Trans-Phar (Integration of TWAS and pharmacological database)

Konuma T, Ogawa K, Okada Y. (2021) Integration of genetically regulated gene expression and pharmacological library provides therapeutic drug candidates. Hum Mol Genet 30:294-304. [Pubmed]
github page [Link]

DEEP*HLA (DEEP learning for HLA allelic imputation)

Naito T et al. (2021) A deep learning method for HLA imputation and trans-ethnic MHC fine-mapping of type 1 diabetes. Nat Commun 12:1639. [Pubmed]
github page [Link]

Obelisc (Observational linkage scan)

Sonehara K and Okada Y. (2021) Obelisc: an identical-by-descent mapping tool based on SNP streak. Bioinformatics 36:5567-5570. [Pubmed]
github page [Link]

GREP (Genome for REPositioning drugs)

Sakaue S and Okada Y. (2019) GREP: Genome for REPositioning drugs. Bioinformatics 35:3821-3823. [PubMed]
github page [Link]

MIGWAS (miRNA-target gene networks enrichment on GWAS)

Sakaue S et al. (2018) Integration of genetics and miRNA-target gene network identified disease biology implicated in tissue specificity. Nucleic Acids Res 46:11898-11909. [PubMed]
github page [Link]

eLD (entropy-based Linkage Disequilibrium index between multiallelic sites)

Okada Y. (2018) eLD: entropy-based Linkage Disequilibrium index between multi-allelic sites. Hum Genome Var 5:29. [PubMed]
R script [Link]

Grimon (Graphical interface to visualize multi-layer omics networks)

Kanai M, Maeda Y, Okada Y. (2018) Grimon: Graphical interface to visualize multi-omics networks. Bioinformatics 34:3934-3936. [PubMed]
github page [Link]

Softwares and data source used in Okada et al. Nature (2014)

Okada Y, Wu D, Trynka G et al. (2014) Genetics of rheumatoid arthritis contributes to biology and drug discovery. Nature 506:376-381. [PubMed]
Summary statistics of RA GWAS meta-analysis
  • Trans-ethnic RA GWAS meta-analysis (19,234 RA cases and 61,565 controls) [Link]
  • Eurpean RA GWAS meta-analysis (14,361 RA cases and 43,923 controls) [Link]
  • Eurpean RA GWAS meta-analysis (8,875 RA cases and 29,367 controls, non-immunochip) [Link]
  • Asian RA GWAS meta-analysis (4,873 RA cases and 17,642 controls) [Link]
  • Summary results of RA risk SNPs in 101 risk loci [Link]
Softwares for 1KG imputation and GWAS meta-analysis
  • Perl source codes for 1KG imputation reference panel preparation [Link]
  • Perl source codes for splitting GWAS data / 1KG reference panel into chuncks [Link]
  • Perl source codes for handling association analysis results [Link]
  • Java package for genomic control (GC) correction [Link]
  • Java package for GWAS meta-analysis [Link]
  • R source codes for plotting Manhattan / QQ plots of GWAS P-values [Link]
Pleiotropy analysis using GWAS catalogue database
  • Curated phenotype/SNP data from the GWAS catalogue (for data downloaded on January 31, 2013) [Link]
H3K4me3 histone mark enrichment analysis for GWAS signals
  • Software for enrichment analysis and histone mark data (from Raychaudhuri lab and the Broad Instiute) [Link]
Softwares and data source for in-silico pipeline to prioritize biological genes from GWAS risk loci
  • Java package for calculating LD between SNPs and 1KG reference data [Link]
  • R source codes for assigning LD regions to SNPs [Link]
  • Perl source codes for assiging UCSC genes into LD regions [Link]

  • Functional annotation of SNPs (Annovar software) [Link]
  • eQTL data for PBMC (from http://genenetwork.nl) [Link]
  • Cell-specific eQTL data (from ImmVar project) [Link]
  • PubMed text-mining (GRAIL software) [Link]
  • Protein-protein interaction analysis (DAPPLE software) [Link]
  • Primary immunodificiency (PID) gene list (from Journal web site) [Link]
  • Cancer somatic mutation gene list (from Journal web site) [Link]
  • Knockout mouse phenotype and gene list (from Journal web site) [Link]
  • Molecular pathway analysis (MAGENTA software) [Link]
Softwares and data source for GWAS-drug target overlap analysis
  • Drug target gene list (from Journal web site) [Link]
  • Perl source codes for overlap enrichment analysis [Link]