My review of hypertension genetics just published in Pulse: karger.com/pls/article/... Some interesting findings, certainly. But I wonder how "useful" they really are??

New publication reporting attempts to detect effects of recessively acting coding variants on risk of clinically important phenotypes: 🧪🤝🖥️ 🧬 karger.com/hhe/article/...

Word cloud of my publication titles shiny.rcg.sfu.ca/u/rdmorin/sc...

In a focused review, UCL student Lea Heinzer provides a thorough account of the insights into schizophrenia pathogenesis provided by genetic studies identifying genes in which sequence variants can exert a dramatic effect on risk. 🧪🧬🖥️ www.oaepublish.com/articles/jtg...

London's Trafalgar Square packed with supporters of Israel, calling for the release of the hostages held by Hamas.

This raises doubts about the many prior studies using similar data and models to recover in-credible accuracies in very small samples.

In a focused review, UCL student Lea Heinzer provides a thorough account of the insights into schizophrenia pathogenesis provided by genetic studies identifying genes in which sequence variants can exert a dramatic effect on risk. www.oaepublish.com/articles/jtg...

In the heart of Westminster,, Together for Humanity, affirming that Londoners of all faiths will continue to stand together against hatred.

This is nuts! Why did this woman with self-confessed severe cognitive impairment get appointed as a minister? And why on earth did she accept the job? It's no wonder she made such a terrible hash of things. We're still suffering the results of her incompetence. www.bbc.co.uk/news/uk-poli...

Here's me talking about the effects of rare coding variants on risk of type 2 diabetes. Aimed at the non-specialist, it gives an account of the kind of work I've been doing over the last few years. And whether personalised medicine will ever be a thing. faculti.net/analysis-of-... 🧪🧬🖥️

Just published in Pulse - analysis of exome sequence data identifies novel genes affecting risk of hypertension. Variants damaging genes for two different guanylate cyclases increase risk. And variants damaging gene for dopamine beta hydroxylase are protective. karger.com/pls/article/... 🧪🧬🖥️

New preprint! Assessment of AlphaMissense against dozens of other methods. Overall AlphaMissense has most power to detect association of rare coding variants with common clinical phenotypes. But varies a lot between genes - for some, other methods are much better. www.medrxiv.org/content/10.1... 🧪🧬🖥️

“And that, really, is the problem: the lack of due diligence means the rewards for bending or breaking the scientific rules tend to outweigh the incentives to observe them” www.ft.com/content/c886...

Please, please can more people start using Pubpeer - pubpeer.com - to highlight and document problems in the published literature. Future changes will need a body of evidence. "The overarching goal of the Foundation is to improve the quality of scientific research by enabling innovative...."

Interesting to see the debate about routine genome sequencing of newborn babies now happening in America. In a BMJ debate article a couple of years ago, I expressed similar concerns about the proposed program in the UK: newjerseymonitor.com/2023/11/14/c... www.ucl.ac.uk/biosciences/... 🧪🧬🖥️

Along with the report that child mortality in the UK has increase by around 10% in a year, this is a real horror story. Around 2/3 of new UK doctors qualified abroad. We're just relying on other (poorer) countries to train our doctors for us. Disgusting parasitism. www.bbc.co.uk/news/health-...

Seriously, how does this happen? For socks, I only buy sets of black ones to keep things simple. Now look what's left in my wardrobe. Nine black socks and not one pair.

Materialism is both incoherent and massively counter-intuitive, directly contradicting people's lived experience. So it's hardly surprising that even those who profess to believe it struggle not to make occasional heretical comments. 🧪🤝🖥️ #NeuroSkyEnce #PsychSciSky direct.mit.edu/jocn/article...

Sigh. Another paper which fails to cite my incredibly relevant contribution to the field which undermines the main conclusion of the new paper. Oh well. Worth a comment on PubPeer, I should think. 🧪🖥️🧬 pubpeer.com/publications...

We're in the twenty-first century. Why on earth have we got a "king"?

Depressing that these papers from 10 and 20 years ago seem more salient today than ever - why is so much terrible science still funded and published? www.nature.com/articles/nrn... www.bmj.com/content/308/...

I don't know if Emily Maitlin has had her account on X hacked, but either way this is a striking video: x.com/maitlis/stat...

I would hope that one thing we could all agree on is that a desirable outcome is that Hamas is swiftly defeated. Good for Israelis, good for Palestinians. Any objectors?

A journal editor has emailed to say they've invited ** 180 ** reviewers to review our (invited) submission. Of whom just 5 agreed. Of whom just 1 has actually provided a review. 🧪🧬🖥️

Libérez nos otages.

AlphaMissense is better correlated with functional assays of missense impact than earlier prediction algorithms https://www.biorxiv.org/content/10.1101/2023.10.24.562294v1

Nice to see that both the Guardian and the Telegraph have published my sceptical comments about the study predicting a huge increase in dementia cases by 2040. Linear extrapolation from a wiggly line is not a thing. www.theguardian.com/society/2023... www.telegraph.co.uk/news/2023/10...

Multiple genes in a single GWAS risk locus synergistically mediate aberrant synaptic development and function in human neurons www.sciencedirect.com/science/arti... #gwas #epistasis #schizophrenia

The fact that Eisen lied about why he was sacked by eLife makes me think that the decision to sack him was probably correct.

Why aren't people getting this? Hamas, which governs Gaza, has stockpiles of fuel which it uses, among other things, to support its tunnel system. But if a hospital in Gaza runs low on fuel this is somehow Israel's fault?

Conclusions from latest analysis of 470,000 exomes: Sigh

Thousands already gathering at Trafalgar Square for the rally to #FreeTheHostages

Release the hostages!

Royal College of Psychiatrists report with recommendations for genetic testing in psychiatry is now out: www.rcpsych.ac.uk/news-and-fea... 🩺🧬🖥️

Can anyone, including (especially) the government, bear another 12 months or more of this?

Study of rare exonic variants on risk of hypertension. Confirms roles for DNMT3A and FES. Implicates genes for different guanylate cyclases NPR1, GUCY1A1 and GUCY1B1. Variants in DBH are protective, suggesting dopamine beta hydroxylase as a novel drug target. 🧬 🖥️ www.medrxiv.org/content/10.1...

Using encrypted genotypes and phenotypes for collaborative genomic analyses to maintain data confidentiality https://www.biorxiv.org/content/10.1101/2023.10.10.561761v1

Pleased to have contributed to this report published by the Royal College of Psychiatrists providing guidance on the role of genetic testing in the diagnosis and management of psychiatric disorders www.rcpsych.ac.uk/improving-ca...

If you are a supporter of Palestine, I wonder how helpful it is right now to go out on the streets of a western city and wave a Palestinian flag. People might think that you approve of the actions Hamas has taken. That this is what the Palestinian cause is about. They might turn against you.

I'm confused. Is Penny Mordaunt saying that Conservatives should stand up and fight for the freedom of adults to smoke cigarettes?

Helen Mirren very impressive on #bbclaurak Rishi Sunak less so.

Surprisingly readable document from the FDA talking about their new scrutiny of lab-developed tests (LDTs). Likely to impact prenatal testing, polygenic risk scores, companion diagnostics in cancer and other tests. Big move, probably positive. public-inspection.federalregister.gov/2023-21662.pdf

Reviewed a paper littered with inaccuracies and provided detailed comments on the first paragraph, which was all I did till I realised I was doing more work than the author had. Recommended reject but said that at least major revision would be required. Editor's decision: Accept

If you think it's OK to deliberately avoid citing papers of mine which describe a method I developed years ago which you will present as novel then I guess I think it's OK to call you out about it on PubPeer. pubpeer.com/publications...

Succah built!

The Bridge Theatre is in quite a cool location. Having one last drink before Guys and Dolls.

Mayfair a sea of EU flags. Rejoin!

I got quoted in the Guardian but what I also said, though they did not print it, is that people who use artificial sweeteners may have concerns about their weight and lower self-esteem. Hence a possible link with increased depression risk. www.theguardian.com/food/2023/se...

In a perspective in the Journal of Genetics, I argue that a correct understanding of Mendel's work allows it to fit well with a modern genetics curriculum. Mendel did not study common, naturally occurring phenotypes rdcu.be/dmywH 🧪🧬🖥️

Report just out from GeneWatch paints a very negative picture of medical applications of polygenic risk scores: Polygenic risk predictions: health revolution or going round in circles? tinyurl.com/ykx7b8k6  🧪