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Chef-d'œuvre by Dr. Guillaume Butler-Laporte in demystifying the HLA region. HLA allele-calling using whole-exome sequencing identifies 129 novel associations in 11 autoimmune diseases: a multi-ancestry analysis in the UK Biobank medrxiv.org/content/10.110…

Preprint alert!📣 Guillaume Butler-Laporte, brent richards, and the team ✅used 450K UK Biobank exome data to call HLA alleles ✅showed improved accuracy compared w/ imputation ✅identified >120 novel associations in 11 autoimmune diseases Great work, Guillaume! medrxiv.org/content/10.110…

Guillaume Butler-Laporte assesses rare and population-specific variants at the mysterious HLA locus to identify >120 novel associations with disease, clarifying the role of HLA in immunity. Some very large effect sizes identified! medrxiv.org/content/10.110…

I am so grateful for brent richards Tianyuan Lu, PhD Guillaume Butler-Laporte Sirui Zhou Vince Forgetta Yossi Farjoun Chen Yiheng Michael Marks-Hultström Chen-Yang Su @DaveMorrisonMTL Tomoko Nakanishi Jonathan Afilalo Yann Ilboudo Nicholas Timpson, and other amazing lab members and collaborators who are not on Twitter. Thank you!😊

Can we use GWAS results to identify the genes that would be found by ExWAS? Doing so could help to identify high-yield drug targets. Here Kevin Liang shows how to do this with relatively accuracy. A 1/6 🧵 link.springer.com/article/10.100…

Register now for the HGSS Academic Series talk from John Morris, this Thursday at 2:00PM! hgssmcgill.wordpress.com/2023/04/17/reg…

Happy to share our work showing that circulating proteins can predict COVID-19 severity 🥳 Our study in Scientific Reports identifies biomarkers to improve patient care! #COVID19 #biomarkers Thanks to Sirui Zhou, Edgar Gonzalez-Kozlova, and brent richards! nature.com/articles/s4159… 🧵:

Our new preprint is out! Obesity strongly increases cardiometabolic risk – but how? We used integrative proteogenomics to identify seven circulating protein mediators, including COL6A3-endotrophin for CAD, which can be reduced by lowering body fat. medrxiv.org/cgi/content/sh… 🧵1/n

Excited to share our large-scale exome sequencing effort in Nature Genetics today. We showed that exome sequencing results can be combined with GWAS hits and our variant to gene mapping algorithm, the Effector Index, to identify high-yield targets. 👇 1/4 rdcu.be/diYqv

Here's our review in nature outlining the contributions that human genetics has made to drug development. After a thorough review of the field, here's a few take-homes. In a mini-thread. nature.com/articles/s4158…

Tomorrow morning at #ASHG2023, I’ll talk about how we used proteomics and genomics to identify an actionable plasma protein linking obesity to coronary artery disease! Join us in the session: Using proteomics to elucidate mechanisms underlying cardiometabolic traits and T2D.

What can metabolomics tell us about disease risk & potential therapeutic targets? Join the #CLSAWebinar presented by McGill Human Genetics trainee Chen Yiheng (supervised by brent richards) to learn. 📝: ow.ly/EhCU50QvEI8 🚨 CIHR IG IRSC Genome Canada Ontario Genomics @GenomeQuebec

Drug development programs with support from human genetics are 2-3 fold more successful. 3 take-aways: 1. Effect size of genetic association doesn't matter. 2. Indications with biomarkers are more successful 3. Less helpful for symptoms of disease. nature.com/articles/s4158…

The Donnelly Centre welcomes a new faculty member, Dr. John Morris! 🎉 Dr. Morris joins our experts in functional genomics as an Assistant Professor with a research focus on the connection between human #genetics and #disease. Learn more 👉 uoft.me/JohnMorris

GWAS findings for a drug target more than double the likelihood of FDA approvals. But most often, it is difficult to understand the causal gene at a GWAS locus. At 5 Prime Sciences , we've developed PRIMEx, a machine learning algorithm to prioritize genes from GWAS loci,

Dr Chen Yiheng received his PhD after a spectacular defense. Congrats 🎉

5 Prime Sciences is excited to announce a multi-year strategic partnership with Eli Lilly and Company to identify and validate drug targets for cardio-metabolic disease. 5primesciences.com/news/

As the CEO of 5 Prime Sciences, I'm very excited to announce a multi-year strategic partnership with Eli Lilly and Company to identify and validate drug targets for cardio-metabolic diseases. 5primesciences.com/news/

As the CEO of 5 Prime Sciences, I'm excited to announce our strategic partnership with GSK to develop new methods to support genentics-enabled drug development. It's an honour to work with one of the most sophisticated human genetics teams in pharma. 5primesciences.com/news/

In an evaluation of variant annotation methods across 24 common traits and diseases, the latest Human Genetics and Genomics Advances article demonstrates that AlphaMissense offers only limited improvements over existing methods: cell.com/hgg-advances/f… #ASHG #HumanGenetics