Daniel MacArthur
@dgmacarthur
Genomics, big data, open science. Director, Centre for Population Genomics at @GarvanInstitute + @MCRI_for_kids. Opinions my own. @dgmacarthur.bsky.social
ID:16629477
07-10-2008 13:32:43
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Magdalena Skipper Wondering if you might comment on the decision to publish in your venue with the disclosed restrictions given:
“A condition of publication in a Nature Portfolio journal is that authors are required to make materials, data, code, and associated protocols promptly available to…
Today we announce the submission to #ClinVar of >32,000 variants evaluated for the return of hereditary disease risk in the AllofUsResearch cohort. Its wonderful to return value to those who contribute their data to biomedical research! More details here: allofus.nih.gov/news-events/an…
I am excited to announce the launch of Renaissance Philanthropy, with a phenomenal team including Kumar Garg. Our goal is to help foundations and philanthropists promote a 21st century renaissance, fueled by advances in science, technology and innovation.
I absolutely love examples of human genetics informing drug adverse effects. A fascinating new example I learned today, thanks to Ben Williams for pointing to me.
Many would be familiar with the immune checkpoint inhibitors used in the treatment of many cancers…
Our review paper on 'Genome assembly in the telomere-to-telomere era' published online in Nature Reviews Genetics. It amazes me how much assembly has progressed in the past four years – often ~100X improvement in contiguity and base accuracy and with haplotypes and hard regions resolved!
Genetic risk shouldn't be considered in isolation. Our work led by Buu Truong shows how clinical risk factors and a coronary artery disease polygenic risk score interact to optimally inform coronary artery disease risk. sciencedirect.com/science/articl… Med by Cell Press