Professor, Dep. Genome Informatics, The University of Tokyo
Professor, Dep. Statistical Genetics, Osaka University
Team Leader, Lab. Systems Genetics, RIKEN IMS
東京大学大学院医学系研究科 遺伝情報学教室がスタートしました🧬🖥️💊。一緒に研究に取り組んでくれる大学院生を大募集中です!!
Just started a new lab (Dep. Genome Informatics) at Univ. Tokyo. Looking for graduate students who work together !!
~今年もやります、遺伝統計学・夏の学校@大阪大学~
We have "online" summer school of Statistical Genetics in Osaka University (in Japanese). Aug 27th-29th, 2021. Any students who has interests in stat genet is welcome!!
#Genetics
#gwas
#SummerSchool
New bioinformatics tool for genomics-driven drug discovery🧬💊🧬. Trans-Phar, Integration of TWAS and pharmacological database, is now at
@hmg_journal
Given GWAS sumstats, Trans-Phar returns potential therapeutic compounds for drug repositioning.
Human genetics widely contributes to individuals' dietary habits in Japanese, including ALDH2 rs671 pleiotropic effects on alcohol, coffee, green tea, milk, yoghurt, natto, tofu, fish, and meat !! See our work in
@NatureHumBehav
New bioinfo tool🖥️🛠️!! OMARU (Omnibus Metagenome-wide Association study with RobUstness): end-to-end workflow on metagenome-wide association study (MWAS) of microbe shotgun sequencing. Kishikawa T. NAR Genom Bioinform
#microbiome
#metagenomics
#bacteria
Half or X chromosomes in females are inactivated (XCI), but some escape. scLinax: tool to quantify XCI escape using millions of single cells by
@YoshiTomofuji
as Asian Immune Diverstiy (AIDA) Nework projects of
@humancellatlas
with
@shyam_lab
& colleagues.
📣COVID-19 single-cell RNA-seq & host genetics of Japanese led by
@RyuyaEdahiro
is finally online at
@NatureGenet
🎉. Innate immune cells have critical roles in COVID-19 severity. Thank for the great team !!
🚨 ONLINE
@NatureGenet
📰 Single-cell analyses and host genetics highlight the role of innate immune cells in COVID-19 severity
🧑🤝🧑
@okada_yukinori
Atsushi Kumanogoh and team
👇🏿
Non-human genome🦠🧬in human🧑🤝🧑is interesting, & human genome🧑🤝🧑🧬in non-human🦠is too !! Quantitative assessment how we can reconstruct personal genome from gut metagenome shotgun-seq is
@NatureMicrobiol
. Nice work by
@YTomofuji_1107
& teams!!
#microbiome
Glad to launch a new lab at
@RIKEN_IMS
in Yokohama: Laboratory for Systems Genetics. Looking for post-doc researchers, technical staff, graduate students who work together on human genomics for disease system biology, drug discovery, personalized medicine.
Eating is surviving!! Biobank-scale and phenome-wide natural selection scans identified dietary habits as population-specific targets of human evolution – alcohol in Japanese but bread intake in Europeans.
See our work in
@MolBioEvol
The first version of the GWAS-SSF format; a recommendation format when depositing GWAS summary statistics to public database such as
@GWASCatalog
. "A community driven GWAS summary statistics standard" in
@biorxivpreprint
#GWAS
Combination of linear and non-linear machine learning (PCA-UMAP) can deconvolute high resolution genetic structure of worldwide populations including Japanese, UK, Malaysian, and Arab!! See our work with
@saorisakaue
in
@NatureComms
.
Our platform talk at ASHG2022🧬. PrgNbr 202 (2:15pm, 26th Wed, Petree C/West).
Namba S
@NambaShinichi
, Saito T et al. "The impact of common germline risk on somatic alterations and clinical features across cancers."
#ASHG22
#PolygenicRiskScore
#PRS
#Cancer
Our metagenome-wide association study (MWAS) in Japanese identified microbiome features of rheumatoid arthritis (RA) and population-specific pathway link with RA GWAS (MWAS-GWAS interaction). Kishikawa T. Ann Rheum Dis 2019.
#microboime
#GWAS
#metagenome
CookHLA: New HLA imputation method. (1) An upgraded hidden Markov model. (2) Local embedding of markers on exons and consensus calling. (3) Adaptive learning of genetic map. Nice work, Buhm!!
👇Please check out platform talks from our group at
#ASHG2023
in D.C.
1. Pan-cancer GWAS & shared genomics between prostate & breast cancers by Dr. Go Sato. Session 010. Thr Nov 2.
2. Cross-population Gene x Environmental (GxE) catlogue by
@NambaShinichi
. Session 020, Thr Nov 2.
Common germline variants can predict the risk of cancer development📈, but can they affect somatic alterations🧬? Yes! they have universal effects on mutations and SCNAs across cancer types.
➡️See published in
@CR_AACR
today!
Our recent publication for NGS-based HLA sequencing of 1,150 Japanese. We expanded HLA imputation into both classical and non-classical HLA genes with upto 6-digit alleles, followed by a phenome-wide association study (PheWAS) of ~100 clinical phenotypes of ~170,000 indivdiduals.
Public release of Japanese gut metagenome and virus databases (JMAG & JVD) at
@CellGenomics
. Population-specific microbiome features like Natto & Nori. Autoimmune disease risk of crAss-like phage sub-families. Nice work by
@YTomofuji_1107
!!
#microbiome
Prof. Yuki Okada outlining the wonderful work from Biobank Japan and outlining his vision for 5 key areas for human genetics research
@ICDAbio
#icdabio2019
Metagenome-wide association study (MWAS) of gut microbiome of systemic lupus erythematosus (SLE) in Japanese is now at
@ARD_BMJ
! Dysbiosis, increased Streptococcus, dosage correlation with serum acylcarnitine , GWAS-MWAS pathway interaction.🧬
Additional evidence for changes in the gut
#microbiome
in patients with
#lupus
and overlap between biological pathways activated in the
#SLE
microbiome and by SLE genetic risk factors 👇!
Our platform talks at ASHG2019. (2) PgmNr 171 (Thu). Hirata J, Sakaue S. “ML-based deconvolution of biobank-driven GWAS data with 170k individuals enlightens the finest-scale genetic, evolutional, and PRS divergence within Japanese.”
#ASHG2019
#PolygenicRiskScore
#machinelearning
[Recent work from our group]
Using BioBank Japan data, we found that functional missense SNPs of
ADH1B rs1229984 and ALDH2 rs671, under positive selection in Japanese for past ~3,000 years, still affects all cause mortality of modern Japanese (Sakaue S. Eur J Hum Genet 2019 ).
Registration for the HCA Asia Meeting November 3-4th, 2022 is now open! The
#HCA2022Asia
meeting in Bangkok, Thailand will be hybrid, both in-person and online.
Register your interest for an in-person space or register for virtual attendance at
Our awsome executive director
@RachelGLiao
outlining the M2M2M challenge
@ICDAbio
is tackling and highlighting the virtual attendees (>300 people joined remotely)
#icdabio
#icdabio2019
If you are in ACR 2022 @ Philadelphia, please join the joint JCR/ACR session (Sun 4:30pm) for trans-omics approaches of rheuamatic diseases.
13S168: Trans-Omics Dissection of Gene Regulation in Immune-mediated Diseases: A Joint JCR/ACR Session
#ACR22
Videos from the ICDA Scientific Plenary & Launch are now available online. Even if you couldn't join us live, we hope you enjoy the fantastic science and discussion!
#ICDAbio2019
The Expression Modifier Score (EMS) paper, describing results of functionally-informed fine-mapping for GTEx v8 in 49 tissues (+ co-localization with 95 phenotypes in UKBB) is now online in
@NatureComms
!
1/3
Immuno-phenotypes dissected AIRD patients into several clusters. RA- or SLE-like clusters were exclusively dominant, showing their immunological polalization. Clusters showed clinical heterogeneity such as treatment resistance in RA patients with SLE-like immuno-phenotypes.
2. Introduction of statistical genetics software from my lab;
MIGWAS; miRNA-target gene networks enrichment on GWAS.
This software integrates GWAS summary statistics and cell type-specific microRNA expression profiels to point biomarker microRNA.
1. Introduction of statistical genetics software from my lab;
Grimon; Graphical interface to visualize multi-layer omics networks.
This software deconvolutes high-dimensional omics data and provides 3D visualization of multi-layer omics networks.