Excited to share our recent work on cross-biobank and pan-ancestry genetic analyses of rare variants for human disease 🧬 published last week in Nature Genetics Xin Wang Patrick Ellinor Link: nature.com/articles/s4158…

Finally, we found that effect sizes for protein-disrupting variations were strongly correlated between EUR and other (AFR, AMR) ancestries. ➡️ evidence for consistency of causal variant effects across ancestries

Excited to share our work on alternative splicing (AS) rdcu.be/dSHtu. This version, compared to the biorXiv one, is much more succinct due to word limits; I hope you will have a look. Congrats to Benjamin Fair and Carlos Buen Abad for their incredible work!🧵⬇️

3. I think it’s likely that for many AS cases with two alternative coding isoforms, the function of one isoform is regulatory: by disrupting a protein domain, AS may render the protein nonfunctional rather than imparting a new function.

I'm endlessly jealous of Sasha's ability to write so clearly. I think this is the best summary of the "missing heritability" debate and how it's been mostly resolved in a way that undermines twin-based heritability studies

As per usual, Sasha Gusev brings clarity and precise insight to a problem that is beset by noise. His comments on measurement error are particularly important here.

Sasha Gusev recent excellent piece (open.substack.com/pub/theinfinit…) on how height and IQ are genetically quite different got me thinking about what a trait is and why even silly things can be heritable. So, let’s start out with the question “what’s a trait?” 1/17

Biobank-scale Ancestral Recombination Graphs still feels like something from the future. A fast method for estimating Ancestral Recombination Graphs: biorxiv.org/content/10.110… And a fast method for using them to perform region-based association testing:

Another incisive long read by Sasha Gusev on how the genetics of intelligence & education differ from the genetics of height, packed with important points lucidly laid out theinfinitesimal.substack.com/p/no-intellige…

Prevention requires bold & forward-thinking investments. My OpEd on why letting funding lapse for AllofUsResearch would be a step backwards statnews.com/2024/09/03/all… STAT

Explanation of how social forces can be mistaken for genetics from Sasha Gusev . Fantastic stuff. I have to say that if you wanted to choose the most culturally confounded phenotype on earth, education would be a great candidate. theinfinitesimal.substack.com/p/comments-on-…

Hmm [jamanetwork.com/journals/jama/…]

An important query that only ropebwt3 supports is to retrieve all distinct haplotypes similar but not necessaily identical to a query sequence. Useful for investigating the haplotype diversity of complex events.

I've reread this exchange between Harden and Plomin a half dozen times now and I still have no idea what point he is trying to make. opentodebate.org/debate/parenti…

Single-cell chromatin accessibility reveals malignant regulatory programs in primary human cancers Science Magazine William J. Greenleaf Howard Chang Ryan Corces science.org/doi/10.1126/sc…