Veera M. Rajagopal

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Neuropsychiatric polygenic scores are weak predictors of professional categories - Nature Human Behaviour

Dec 9, 2024 | nature.com | Georgios Voloudakis |Karen Therrien |Simone Tomasi |Veera M. Rajagopal |Ditte Demontis |John F. Fullard | +3 more

AbstractPolygenic scores (PGS) enable the exploration of pleiotropic effects and genomic dissection of complex traits. Here, in 421,889 individuals with European ancestry from the Million Veteran Program and UK Biobank, we examine how PGS of 17 neuropsychiatric traits are related to membership in 22 broad professional categories.
How a jumping gene shaped the human skin color evolution

Jul 28, 2024 | gwasstories.com | Veera M. Rajagopal

Regular readers of my Substack would recognize my special interest in noncoding genome. Today, we explore a fascinating tale of how a mobile genetic element has been coloring the evolutionary journey of our human ancestors for hundreds of thousands of years. One of the biggest mysteries that scientists were wrestling with during the early days was the puzzling disconnect between size of the organisms and their genomes.
A noncoding RNA gene will solve genetic diagnoses for thousands

Jul 13, 2024 | gwasstories.com | Veera M. Rajagopal

Until I was in academia, I worked within a small group of researchers who all pretty much had the same expertise as I had and so, I was never used to explaining certain genetic concepts during the scientific discussions. This worsened my—what advocates of good writing like Steven Pinker describe as—"curse of knowledge". I only realized this after I started working in industry. In my day job, I communicate genetic results to scientists whose expertise differ drastically from mine.
Solving a 25-year-old genetic puzzle

May 6, 2024 | gwasstories.com | Veera M. Rajagopal

I hope your week is off to a great start! The past few days, I’ve been digging into the Spinocerebellar ataxia type 4 (SCA4) literature, inspired by a new NatureGenetics paper on the successful mapping of the causative gene and mutation underlying SCA4. I've read this work last year when it was preprinted and tweeted about it. I've mentioned this preprint in a couple of my past substack posts in relation to long-read sequencing, and discussed it in the Genetics podcast with Patrick Short.
The underappreciated role of rare disease in drug development

Mar 29, 2024 | gwasstories.com | Veera M. Rajagopal

Happy Friday! I’ve been thinking about the role of rare diseases in drug development this week. Drug companies are racing to sequence healthy volunteers in millions. But very few care about rare disease patients. As much as a healthy human carrying a beneficial mutation helps with drug development, a rare disease patient carrying a pathogenic mutation equally provide useful information. Rare disease informing drug development is one of my favorite topics.
Insights from a deep dive into the genetics of Lp(a)

Mar 15, 2024 | gwasstories.com | Veera M. Rajagopal

Happy Friday! For this week’s From the Twitter archives, I picked a thread I wrote on the beautiful genetics of Lp(a) based on a paper by Ronen E. Mukamel, Po-Ru Loh, and colleagues from Harvard Medical School published in Science in 2021.
Null mutations in interferon genes in Polynesia

Mar 1, 2024 | gwasstories.com | Veera M. Rajagopal

Happy Friday! The aftereffects of the controversial UMAP figure in the All of Us flagship publication in Nature last week are still lingering on Twitter. The reactions on Twitter to a scientific figure (that was created by the authors with good intentions to showcase the rich diversity of the All of Us biobank) have made me worry about how the woke mentality of certain scientists might hurt the very communities that these people are trying to help.
In pursuit of recessive genes

Feb 9, 2024 | gwasstories.com | Veera M. Rajagopal

Happy Friday! I hope that at least some of you have read my January human genetics roundup. For this week’s From the Twitter archives post, I chose a Twitter thread that is closely related to one of the papers from deCODE genetics I highlighted in the roundup. As I mentioned in the post, the deCODE scientists have special interests in finding recessive genes (which is not surprising as, you know, Iceland is a founder population).
2023 round-up of human genetics

Dec 31, 2023 | gwasstories.com | Veera M. Rajagopal

Another new year is already here. Here I am writing to you exactly one year since I sent you my last Substack newsletter. For some reason, I couldn’t get out of the comforts of writing Twitter posts. It might have something to do with my lack of discipline and excessive procrastination when it comes to tasks that take days instead of an hour or two. I am hoping to write to you more in the new year. Let’s see how that resolution turns out.
Multi-ancestry genome-wide association study of cannabis use disorder yields insight into disease biology and public health implications - Nature Genetics

Nov 20, 2023 | nature.com | Daniel F Levey |Marco Galimberti |Joseph D. Deak |Dora Koller |Emma Johnson |Mahantesh Biradar | +12 more

AbstractAs recreational use of cannabis is being decriminalized in many places and medical use widely sanctioned, there are growing concerns about increases in cannabis use disorder (CanUD), which is associated with numerous medical comorbidities.