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
How do we move from GWAS signals to disease mechanisms?
Editorial in A&R illustrates how a single RA risk locus provides insights into cell-type specificity, molecular function, and therapeutic targets, beyond conventional QTL-based approaches. Bridging genetic findings to biological mechanisms is essential for translating GWAS results into therapeutic strategies.
@okada_yukinori@RyuyaEdahiro
https://t.co/HbFaT5fDNR
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
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 new paper in Nature Genetics!!
Single-cell deconvolution of various somatic mutations including mCAs, loss of Y, and mt-heteroplasmy.
https://t.co/2D2QHmUjps
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
📣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 !! https://t.co/9GjvAwsHjD
Our new paper is finally out! "Single-cell analyses and host genetics highlight the role of innate immune cells in COVID-19 severity" @NatureGenet (https://t.co/4k0lproJSs)
🚨 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
👇🏿
https://t.co/LrqMhC11iC
Excited to finally see ExpiMap out @NatureCellBio - led by @Mohlotf & Sergei Rybakov, we inform single-cell embeddings by pathway priors (+ newly-learnt ones). This allows for biologically understandable components in the latent space and program queries. https://t.co/czvxbbr4Eu