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.

RT @UTokyo_News: [プレスリリース] 全ゲノムシークエンス解析により乾癬の新規関連遺伝子を発見――見逃されてきた希少変異と構造変異の関与を解明―――医学系研究科・医学部.

RT @CellGenomics: Whole-genome sequencing reveals rare and structural variants contributing to psoriasis and identifies CERCAM as a risk ge….

I would like to thank @okada_yukinori, all other collaborators, and participants supporting this study. Thank you, all! (5/5).

As in-vivo validation, Cercam-knockout in a psoriasis mouse model showed aggravated dermatitis with elevated T-cell retention in the subepidermis. (4/5)

Gene-based rare variant analysis showed a strong enrichment of damaging missense variants in CERCAM, which is mainly expressed in the subepidermal region of psoriasis patients’ skin. (3/5)

By analysing structural variants, we found a 3.3-kb deletion at an epithelium-specific enhancer at IFNLR1. Statistical fine-mapping suggested this variant as a strong candidate causal variant. This variant was validated by PacBio long-read sequencing. (2/5)

This study collected WGS data of over 5000 Japanese individuals with or without psoriasis. Based on this, we detected rare and structural variants throughout the genome. (1/5)

RT @Go_Sato_UT: Our new paper in Nature Genetics!!.Single-cell deconvolution of various somatic mutations including mCAs, loss of Y, and mt….

RT @RyuyaEdahiro: Our Japanese multi-omic immune cell atlas is out in @NatureGenet!.We projected omics layers — from germline/somatic mutat….

RT @UTokyo_News: [プレスリリース] COVID-19ワクチン接種時の免疫獲得に関わる遺伝子の発見――生まれつきのゲノム変異と後天的なゲノム変異の関与が明らかに―――医学系研究科・医学部.

RT @CellGenomics: Germline variants and mosaic chromosomal alterations affect COVID-19 vaccine immunogenicity

RT @okada_yukinori: Germline ＆ somatic mutations at MHC & IGH define COVID-19 vaccine immunogenicity. mCA at 6p-MHC, 14q-IGH, mosaic loss….

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.

We analysed Japanese cohorts of COVID-19 vaccine recipients and found germline variants at MHC and IGH loci affecting the immunogenicity. Notably, the IGH variant was an East Asian-specific missense SNP encoding the constant region of immunoglobulin heavy chains.

Our paper on germline/somatic mutations influencing COVID-19 vaccine immunogenicity is out @CellGenomics!.

RT @PhDood1es: What geneticists fear the most: The Cambridge Plot.

RT @naito_tatsuhiko: Should we just focus preventive interventions on high-PRS groups in genetic precision medicine? To answer this, we app….

RT @YoshiTomofuji: We are happy to announce that scLinaX paper is finally published in @CellGenomics 🐧!! If you are interested in escape fr….