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Daniel MacArthur Profile picture
Daniel MacArthur
@dgmacarthur
Genomics, big data, open science. Director of the Centre for Population Genomics at @GarvanInstitute and @MCRI_for_kids. Opinions entirely my own.
Jul 29, 2022 • 10 tweets • 4 min read
Chris Goodnow is a world-renowned immunologist. Before catching COVID in May, he was also an avid cyclist and surfer, the director of a major medical research institute, and my boss.

And then, like many other COVID patients, the virus hit his heart. abc.net.au/news/health/20… Heart complications are a common and serious side effect of COVID infection. There's a huge spike of new cardiac diagnoses made within 3 months of COVID infections, resulting in increased risk of death and long-term side effects. journals.plos.org/plosmedicine/a…
Jan 27, 2022 • 18 tweets • 4 min read
This excellent thread captures something I've seen so many times when mentoring young academics through career choices: the sense of guilt and failure that often comes with deciding to leave academia.

Academia is *built* to reinforce this sense. It's hard to fight it. Academics spend their formative years surrounded by other academics. When your mentors, your peers, and the people you most admire have all chosen the same career path, it's hard not to see that as *the* model of success.
Oct 27, 2021 • 6 tweets • 2 min read
NSW kids went back to school this week, but we’ve kept our three out of school/daycare due to inadequate safety policies. Yesterday we got an email from daycare about a positive case; this morning, notification of at least one confirmed transmission. We’re incredibly fortunate to be in a position to keep our kids home. My heart goes out to the many parents who can’t - and I’m absolutely furious at the NSW government for not imposing basic common sense safety measures.
May 5, 2020 • 10 tweets • 3 min read
As Australia begins to emerge from lockdown, I'm launching a search for several key staff for our new Centre for Population Genomics, which will now be launching at the beginning of July with physical sites in Sydney and Melbourne. Please RT! We'll be kicking off the Centre with a number of large research projects, including: (1) recruitment and WGS/functional genomics of >10,000 Australians from diverse communities; (2) a COVID-19 study of non-Europeans; and (3) ongoing study of human "knockouts".
Nov 20, 2019 • 10 tweets • 5 min read
After seven amazing years in Boston, I am both sad and excited to (finally) be able to officially announce that I'll be returning to my native Australia in 2020 to start a new adventure! I'll be directing a new centre for population genomics as a partnership between the Garvan Institute of Medical Research in Sydney and the Murdoch Children's Research Institute in Melbourne, bridging two world-class research institutes in the two largest cities in the country.
Oct 2, 2019 • 7 tweets • 3 min read
Lots has already been said on Twitter about the CCR5-reduced lifespan study. One outcome for us was the discovery of a rare, previously unknown error mode in the gnomAD data set, now described in detail by @konradjk in a preprint: The error mode results from the presence of low-level contamination in some gnomAD samples, resulting in a small number of reference reads at homozygous non-reference sites; in some cases, GATK will falsely interpret these as supporting a heterozygous genotype.
May 1, 2019 • 4 tweets • 1 min read
Many of you will know the remarkable story of Eric and Sonia, and their battle to cure the disease that killed Sonia's mother (and will kill Sonia, if they don't stop it). If you don't know the story, read it here: wired.com/story/sleep-no… And now, they need your help. Eric and Sonia just successfully defended their PhDs. In an astonishingly short period of time, they have gone from a genetic diagnosis to convincing a pharmaceutical company to work seriously on a potential therapy. I have never seen rare disease research move this fast.
Feb 19, 2019 • 7 tweets • 4 min read
Our latest preprint, led by @beryl_bbc, starts with a mystery: why are there hundreds of people in gnomAD who shouldn't be there? These people carry predicted truncating variants in genes where these are known to cause severe dominant pediatric disease. Our team manually curated 401 of these variants, and found (as expected) a ton of errors. One of the major error types was what we called a "transcript error", meaning the variant fell on a transcript that looked like it wasn't real, or was very weakly expressed.