Postdoctoral Fellow at @SangerInstitute
(formerly working at @UTokyo_News_en and @UOsaka_en)
Interested in statistical genetics and computational biology
Honoured to give an oral presentation at #ASHG2025🧬 in Boston!
I'll present tomorrow (!) a WGS study of psoriasis focused on structural and rare variants.
📅Wednesday, October 15, 11:30-11:45
🏡Room 253ABC (Level 2)
Pleased to announce that our paper, Meta-analysis across six global biobanks identifies recessive coding associations with complex traits and diseases, is now officially published by @AJHGNews.
A quick 🧵 below:
https://t.co/fpnNzf17nO
#recessive#GWAS#metaanalysis#genomics
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
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
As in-vivo validation, Cercam-knockout in a psoriasis mouse model showed aggravated dermatitis with elevated T-cell retention in the subepidermis. (4/5)
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
Germline & somatic mutations at MHC & IGH define COVID-19 vaccine immunogenicity. mCA at 6p-MHC, 14q-IGH, mosaic loss of sex chromosome decrease vaccine titer but increase infection, allergy, rheumatic disease risk. @qsonehara@HoNamkoong@CellGenomics
https://t.co/sJIbl1sztj
I would like to thank Dr Yoshifumi Uwamino, @okada_yukinori, @HoNamkoong, and all other colleagues, collaborators, and participants for their valuable contribution!
We further examined haematopoietic mosaic chromosomal alterations. In agreement with the germline variants, these somatic alterations at MHC/IGH also impaired the immunogenicity, while they conferred the risk of infectious/immune-related diseases.