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GWAS🧬for a rare disease, Hunner-type interstitial cystitis (HIC), identified the HLA variant risk, showing evidence as Immune Disease. Nice work by Yoshiyuki Akiyama & Kyuto Sonehara is now Cell Reports Medicine. cell.com/cell-reports-m… #RareDisease #GWAS #HLA #MHC

nature.com/articles/s4146… ANCA関連血管炎患者検体のシングルセル解析の仕事がこのたびNature CommunicationsにPublishされました。 関係各位、そして研究の仕事をサポートしてくれた家族に心から感謝します。

We are happy to announce that our new preprint regarding the scLinaX, software to quantify escape from X chromosome inactivation from 10X scRNA-seq data, was released from bioRxiv 🎉🎉🎉!! biorxiv.org/content/10.110… (1/N)

Cohort-wide immuno-phenotyping of 46 immune cell types extracts immunological & clinical heterogeneity across ~1,000 patients of 11 autoimmune rheumatic diseases (AIRDs). Now at @ARD_BMJ dx.doi.org/10.1136/ard-20… (1/N)

Poster presentation by Yugo Takahashi (medical student) & Qingbo Seiha Wang got "Reviewers' choice abstract" in ASHG meeting 2023㊗️🎉 Japan Omics Browser (JOB), integrative visualization of multi-omics data of Japanese. Publickly available at japan-omics.jp #ASHG2023 #eqtl #pqtl

💡Preprint alert! Polygenic risk score (PRS)-based embryo screening is strikingly unrobust across PRS construction methods with randomness. Huge thanks to the wonderful collaboration with clinical/basic/ELSI specialists medrxiv.org/content/10.110…

🧬Our PRS paper is out on Nature Genetics 🎯 We evaluated the impact of sample stratification👫 by trait on polygenic prediction🧬🎯 using #BMI and #diabetes ‼️ Huge thanks to all contributors and biobank participants. nature.com/articles/s4158…

[プレスリリース] 不育症（習慣流産）の発症に関わる遺伝子の発見――生殖免疫学と細胞接着分子の関与が明らかに―――医学系研究科・医学部／ u-tokyo.ac.jp/focus/ja/press…

We are happy to announce that scLinaX paper is finally published in Cell Genomics 🐧!! If you are interested in escape from X chromosome inactivation, a mechanism contributing to sex difference of transcriptome, please check our paper! cell.com/cell-genomics/… Tweetorial↓

Should we just focus preventive interventions on high-PRS groups in genetic precision medicine? To answer this, we applied Causal Forest to map heterogenous env.-dis. associations across PRS in our paper co-led by Kosuke Inoue, published Communications Medicine! doi.org/10.1038/s43856…

What geneticists fear the most: The Cambridge Plot.

Germline variants and mosaic chromosomal alterations affect COVID-19 vaccine immunogenicity dlvr.it/TJKX8Z

[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 u-tokyo.ac.jp/focus/ja/press…

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. Kyuto Sonehara 南宮湖(Ho Namkoong) Cell Genomics cell.com/cell-genomics/…