Our #GWAS paper on primary aldosteronism (PA), the leading cause of secondary hypertension, is published today in Circulation Circulation! Our cross-ancestry study revealed novel risk loci and an unexpectedly large genetic contribution of PA to hypertension. doi.org/10.1161/CIRCUL…

Although being rapidly incorporated into health care, there are currently no clinical guidelines for use of this technology. Polygenic risk scores are probabilities & do not provide an absolute risk for disease development. @Theacmg Via Genetics in Medicine sciencedirect.com/science/articl…

GWAS analysis for aneuploidy using ultra-low depth WGS from PGT-A data. Very exciting. Identifying risk genes for embryo aneuploidy using ultra-low coverage whole-genome sequencing medrxiv.org/content/10.110…

Trajectory GWAS for BMD. WNT signal is related to longitudinal changes of BMD. link.springer.com/article/10.100…

Splam: a deep-learning-based splice site predictor that improves spliced alignments biorxiv.org/content/10.110… Within 400 nt among splice sites, Splam shows higher accuracy than SpliceAI. I'm interested in comparison between Splam and AbSplice.

Beyond the exome. The rare disease genetic diagnosis rate is less than 50%. We need to build a bridge of multi-omics to increase it. sciencedirect.com/science/articl…

Trans-ancestry puberty GWAS. G2G analysis reveals biological mechanisms under human puberty. As an endocrinologist, I'm interested in relation to GPCRs. Understanding the genetic complexity of puberty timing across the allele frequency spectrum medrxiv.org/content/10.110…

Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project medrxiv.org/content/10.110… A competition for pathogenic variant prediction in rare disease contexts organized by CAGI6 RGP.

Rare variants and common variants are associated with BMD through the same genes. Do newly detected genes, CD109 and CADM1, cause monogenic disease related to BMD? nature.com/articles/s4158…

The protein language model predicts the pathogenicity of missense variants including other isoform information. nature.com/articles/s4158…

Unknome; genes highly conserved but whose functions need to be better understood. The authors evaluated the functions using RNAi in Drosophila and provided the database. journals.plos.org/plosbiology/ar…

Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease medrxiv.org/content/10.110… The variant on APOL1 has a huge protective effect and reduce penetrance for the severe kidney disease.

A modifier variant and environment have impacts on the progression of Alzheimer's disease. Wonderful work. nature.com/articles/s4146…

車内にお子さんを置いて離れるのは短時間でも危険なんよ 『カバンをこどもの隣に置く』といった、うっかりによる事故が起こらないようなシステム作りも大切じゃ 幼児は“10分程度”でも命落とす恐れ…危険な『車内での子供置き去り』夏日でなくても中は50度近くまで tokai-tv.com/tokainews/feat…

🎉フォロワーほぼ1万人 拙著『ここはこう書け！いちばんわかりやすい科研費申請書の教科書』を2名のフォロワーにプレゼント🎁 ⏱️2月5日21時までに、このポストをRTしてエントリー 抽選し、後日DMします ーー別件ーー kakenhi.com/examples/ 未掲載の申請書の情報をご存じの方は教えてください🙇

Thrilled for #ASHG24. Please check out our latest work about the impact of ancient hunter-gatherer on modern Japanese.

Grad to see our latest work about the impact of ancient hunter-gatherer Jomon in the present-day Japanese populations is out in Nature Communications ! nature.com/articles/s4146… Thanks again for the great collaboration with YukinoriOkada, Shigeki Nakagome, and BBJ.

【注目論文；Our Focus on Genetics を掲載しました。】 個別因果効果を予測する機械学習モデルを用いた心血管代謝疾患と環境因子の関連の異質性の解明 内藤龍彦 詳細はこちらから jshg.jp/news/9688/

JSHG将来構想委員会では若手会員の論文を【注目論文；Our Focus on Genetics】として紹介しています*\(^o^)/* #JSHG #OurFocusonGenetics

まじか、これ。乳児にハチミツが危ないということを知らない世の中になってきているのかも。