I’ve handled the review of > 1000 papers at @nature. Over time, you notice aspects of presentation on which reviewers tend to comment. In the interests of minimizing hassles during review, I offer the following suggestions (a bit targeted to climate papers).

Caroline Wright Room A8 #eshg2024 Educating us about the penetrance of developmental disorder variants in the general population 1/n 🧵

A six feature logistic LASSO model predicts immunotherapy response better than prior Machine Learning methods. A good reminder that bigger isn't always better and treatment history matters a lot! [Chang et al. Nature Cancer nature.com/articles/s4301…]

A thread to understand the impact of this groundbreaking publication. @nature

Really proud of this team effort with Brad Jermy, Kristi Läll & the rest of the INTERVENE team. nature.com/articles/s4146… We hope our framework will enable risk-based prevention and screening & bring polygenic scores into more precision medicine approaches.

New out in Nature!! With age, women can lose one X chromosome in their leukocytes. What’s the cause/consequence? How does it differ from the loss of the Y chromosome in men? nature.com/articles/s4158… Broad Institute FinnGen FIMM HelsinkiUni National Cancer Institute Cambridge University

Really nice method for computing context specific polygenic score uncertainty. PRS methods are so far ahead of most clinical scores on this point. nature.com/articles/s4158…

Q: Is the variability in polygenic score performance larger between biobanks or between the methods used to build the scores? A: Between biobanks! Phenotype harmonization remains key for polygenic scores transferablity Great project led by Remo Monti Christoph Lippert Lisa Eick

Coffee changes connectivity in the brain. 🧵1/11

Comparison of imputation performance for rare variants between three reference panels (HRC, GEL (Genomics England), and TOPMed) in continental ancestries. While TOPMed is best (or as good as GEL) for European, African and admixed American ancestries, GEL panel is great for South

I'm often asked about the latest GWAS datasets for different cardiovascular traits🧬 🔗This is my list with links to the most recent and largest publicly available GWAS summary statistics for cardiometabolic traits❗️ docs.google.com/spreadsheets/d…

No matter how much we search, genetics continues to hide gems🧬 In N=174,329 postmenopausal women homozygosity for a stop-gain variant in CCDC201 leads to menopause 9 years earlier! 👉OR=35 for menopause <45 y 👉OR=27 for menopause <40 y nature.com/articles/s4158…

4. Most type 1, and some type 2 diabetics, are dependent on daily insulin injections to control their blood sugar These phase 3 trials for daily (degludec) vs. weekly (efsitora) insulin, in type 1 (left) and 2 (right) diabetes, found that once-weekly insulin was just as good as

Warm welcome to the Harvest time at FIMM seminar! FIMM Director Samuli Ripatti and new FIMM-EMBL Group Leaders will present their plans for the near future. 📅Wednesday Oct 30 at 13:15-15:00 🏢Biomedicum Helsinki, Lecture Hall 1 More information and registration: lyyti.fi/reg/FIMM_harve…

Last autumn FinnGen hit its target of sampling close to 10% of the Finnish population with more than 500,000 participants. We are happy to announce that the results based on the full cohort are now publicly available for the whole research community: finngen.fi/en/results-bas…

For many traits there is a correlation between the number of duplications or loss-of-function (LoF) mutations someone carries, and their phenotype. Curiously, for most traits, these effects are aligned in the SAME direction. Why?

Forthcoming guidance will recommend labs report VUS subclasses. We share experience of 4 labs including rates of reclassification of VUS subclasses. By highlighting VUS-high and downplaying VUS-low, this will be game-changing for dx genetic testing. buff.ly/3Cpx5RL

A FinnGen-based study led by researchers FIMM HelsinkiUni has discovered a genetic defect in the TBPL2 gene that affects the maturation of oocytes, leading to infertility in women who have inherited the non-functional form of the gene from both parents. helsinki.fi/en/news/genes/…

Comparison of pathway-specific polygenic risk score for type 2 diabetes between Europeans (purple) vs South Asians (green; Pakistanis & Bangladeshis). While obesity risk variants are enriched in Europeans, lipodystrophy risk variants are enriched in South Asians, explaining the

Million Veteran Program & FinnGen teams are pleased to release v1 meta-analysis of MVP, FinnGen and UKBB GWAS data. This first version includes ~300 binary disease definitions across >1.5 M individuals. Browse scans at: mvp-ukbb.finngen.fi