Our editorial in Arthritis & Rheumatology is now out.
We discuss how to move from GWAS signals to disease mechanisms, beyond conventional QTL-based approaches.
Co-authored with @okada_yukinori
Germline haplogroup & somatic loss of Y chromosome (LOY) define risk of human traits🤸♂️🧬👋, type 2 diabetes (T2D) in East Asian males. #Singlecell projection of LOY into blood and pancreatic cells. @Go_Sato_UT㊗️ @NatureMedicine#LOY#GWAS#CHIP#diabetes
https://t.co/ZDLL6kksB1
🧬Y chromosome is clinically relevant.🤸♂️
We show that both Y haplogroups and mosaic loss of Y (LOY) shape complex traits such as T2D risk @NatureMedicine.
Single-cell analyses reveal cell type-specific LOY accumulation across tissues and disease contexts.
https://t.co/9j0b2b7Bpq
Cross-biobank catalogue of Gene-Environment (GxE) interactions🧬❎🍷🚬 - explains a significant part of current GWAS missing heritability. The project lead by @NambaShinichi is finally @Nature🎉
https://t.co/1BzFIYzZ67
Just out in @Nature🚀
GWAS treats genetic effects as fixed —but they’re not always.
Using large biobanks, we map gene–environment interactions and show how dynamic genetic effects enable environment-aware polygenic prediction and drug discovery.
https://t.co/Aju4sqy15t
Our Platforms & Finalists #ASHG2025🎉🧬
@qsonehara SV & RV psoriasis risk by WGS: CERCAM as novel risk gene
Sugahara K. East Asian GWAS of serum immunoglobulin & subclass for humoral immunity
@Go_Sato_UT Male genetic regulation of germline & somatic Y chr variation shape T2D risk
WGS structural & rare variant analysis of psoriasis vulgaris identified IFNLR1 3kb deletion SV & risk RV at cercam fol by long-read seq, skin spatial transcriptome, knockout mouse with imiquimod psoriasis model. Lead by @qsonehara in @CellGenomics🎉
https://t.co/49sbqaQRAI #WGS
Excited to share our whole-genome sequencing study on psoriasis out in @CellGenomics!
Looking into rare and structural variants highlighted the disease genetics that conventional GWASs have overlooked.
https://t.co/o7IDlhVX3I
Single-cell &dynamic eQTL PBMC of Japanese PBMC🧬🩸🖥️. Somatic mutations (mosaic chromosomal alteration; mCA, loss of Y; LOY, mitochondria heteroplasmy) projected to single cell resolution by @RyuyaEdahiro@Go_Sato_UT & team🤼. Now @NatureGenet ㊗️🎉
https://t.co/TQ04bjBNIc
Our Japanese multi-omic immune cell atlas is out in @NatureGenet!
We projected omics layers — from germline/somatic mutations to metagenomics — into single-cell space to uncover dynamic immune regulation.
https://t.co/H5BRqlxi0M
Our new paper in Nature Genetics!!
Single-cell deconvolution of various somatic mutations including mCAs, loss of Y, and mt-heteroplasmy.
https://t.co/2D2QHmUjps