Published today, our reasons for optimism that success rates in drug discovery can be improved by picking the right targets using human genetics: nature.com/articles/s4158…

I break the key findings down panel by panel in this thread: x.com/cureffi/status…

🚨 #Immigrant Scientists - You are invited to apply for a $50K Vilcek Prize for Creative Promise in Biomedical Science by June 10, 2024. Foreign-born scientists working in #biomedicalresearch in the United States are encouraged to apply. 🔗 vilcek.co/2025cppbiomedto

Happy to share paper

Efficient storage and regression computation for population-scale genome sequencing studies

biorxiv.org/content/10.110…

To accompany Carl Veller and Graham Coop's recent article in PLOS Biology, I wrote an accessible primer on family-based genome-wide association studies:

Genome-wide association studies (GWASs) can be affected by confounding. Family-based GWAS uses random, within-family genetic…

Lubert was a great scientist, teacher, writer, and individual. I worked in his lab as an undergrad and learned biochemistry from the remarkable first edition of his textbook. Taking over this project 29 years ago was one of the great honors of my life. Greg Gatto 🌻

Veera Rajagopal  The article is now out: link.springer.com/article/10.100….
When we saw the preprint, we tried to replicate and it held up (70% risk reduction in APOE*4 homozygotes)! We were lucky to be able to contribute more human statistical genetics support to this compelling finding!

Message to the world, if they’ll hear us now.

Normand Meunier.

Say his name. A victim of our failing health system. He was left on an ER stretcher for 4 days and developed a bedsore that worsened so much that bone + muscle were exposed. 2 weeks ago, he ended his life via MAID.

via André Picard

cbc.ca/news/canada/mo…

Thanks to Gairdner Foundation for the video. The community research program and the labs are in the capable hands of my phenomenal colleagues at CMC Vellore (Official) and I am at Gates Foundation with amazing people, still trying to do better for & with children, their families & community

We are getting amazing emails from people who have identified individuals with RNU4-2 variants ❤️

If this is you, and your families are interested in meeting others or being part of a community, then please direct them to Unique (@swynn_unique).

Happy to announce that summary statistics from our study: 'Multivariate genome-wide association meta-analysis of over 1 million subjects identifies loci underlying multiple substance use disorders' are now up on the PGC website (Eur and AA subsamples).
pgc.unc.edu/for-researcher…

Enjoyed telling the stories of some great human genetics papers published in the first quarter of this year.

The field is moving fast, and many exciting works are getting out every day. I enjoy curating papers that together paint a big picture of the field's progress and…

Mendelian Randomisation (MR) is going to hell in a handcart, with an exponential weekly increase of papers with Mendelian Randomisation in the title, most of them nonsense. 25th April 4.30pm online or in person UCL I'll talk about what should be done forms.office.com/pages/response…

Thanks veera. Very nice and generous telling of the story. But you missed the earliest one out. Pcsk1. We actually discovered this before the human LEP mutations but published just a few weeks later Nat Genetics 1997 PMID 9207799. It was a human finding. No preceding mouse.

This is so cool - a remarkably frequent mutation in a non-protein-coding RNA gene, which causes around one in every 200 currently undiagnosed cases of developmental delay around the world (including 8 Australian families so far!). A couple of thoughts (1/3)

A mind-blowing discovery of a noncoding region in the human genome that might be holding the answer that 1000s of parents around the world with a child with a neurodevelopmental disorder (NDD) have been patiently waiting for years.

A recurrent de novo noncoding single base pair…

Oops I did it again 🤭

#TotalSolarEclipse

Exome-wide association study of birth weight (n mothers =181,883; n offspring = 234,675)

Kentistou, Lim, Kaisinger, et al. medRxiv
medrxiv.org/content/10.110…

GWAS of Fuchs corneal dystrophy in ~4k cases and >300k controls. Look at the impressive tower on chromosome 18 at the TCF4 locus. CTG intronic repeat expansion in TCF4 (encodes a transcription factor) is the strongest risk factor (OR>30) of late onset Fuchs. The disease mechanism…

How does this end up in Cell?

Infant microbes and metabolites point to childhood neurodevelopmental disorders cell.com/cell/fulltext/…