Daniel MacArthur

Daniel MacArthur
CitizenshipAustralian
EducationUniversity of Sydney
Known forGenome Aggregation Database, 1000 Genomes Project
AwardsAmerican Society of Human Genetics Early Career Award, European Society of Human Genetics Award

Daniel Geoffrey MacArthur is an Australian geneticist who is currently serving as the director of the Centre for Population Genomics (CPG) in Darlinghurst, Australia.[1]

Education and career

MacArthur completed his undergraduate and PhD in biomedical science at the University of Sydney before moving to postdoctoral studies at the Wellcome Trust Sanger Institute in Cambridge, UK.[1] During this time, MacArthur was involved in the 1000 Genomes Project.[2] He then took up a faculty position at Harvard Medical School, Massachusetts General Hospital, and the Broad Institute of MIT and Harvard in Boston to build a new research team in a recently established department led by Mark Daly.[3] During his time at the Broad Institute, led the development of the Exome Aggregation Consortium (ExAC) - later known as The Genome Aggregation Database (gnomAD) - in 2014.[4] gnomAD is now the world's largest publicly available collection of human DNA variation, spanning over 800,000 individuals.[5]

MacArthur left the Broad Institute as he moved to Australia to lead the CPG, a joint initiative between the Garvan Institute of Medical Research and the Murdoch Children's Research Institute, in 2020.[6]

Awards

  • American Society of Human Genetics Early Career Award (2017)[7]
  • European Society of Human Genetics Award (2025)[3]

References

  1. ^ a b "Our Leaders - Centre for Population Genomics". Centre for Population Genomics. Retrieved June 24, 2025.
  2. ^ MacArthur, Daniel G.; Balasubramanian, Suganthi; Frankish, Adam; Huang, Ni; Morris, James; Walter, Klaudia; Jostins, Luke; Habegger, Lukas; Pickrell, Joseph K.; Montgomery, Stephen B.; Albers, Cornelis A.; Zhang, Zhengdong D.; Conrad, Donald F.; Lunter, Gerton; Zheng, Hancheng (2012-02-17). "A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes". Science. 335 (6070): 823–828. doi:10.1126/science.1215040. ISSN 0036-8075. PMC 3299548. PMID 22344438.
  3. ^ a b "Daniel MacArthur - ESHG Conference 2025". ESHG. Vienna, Austria. Retrieved June 24, 2025.
  4. ^ "About gnomAD". gnomAD. Retrieved June 24, 2025.
  5. ^ Baxter, Samantha; Singer-Berk, Moriel; Russell, Kathryn; Amin, Mutaz; Glaze, Carmen; Grant, Riley; Lee, Josephine; Watts, Nick; Wilson, Michael; Rehm, Heidi; O'Donnell-Luria, Anne (2024-01-01). "P138: Evaluating the impact of gnomAD v4 on genetic prevalence estimates*". Genetics in Medicine Open. 2024 ACMG Annual Clinical Genetics Meeting. 2 101035. doi:10.1016/j.gimo.2024.101035. ISSN 2949-7744.
  6. ^ "Professor Daniel MacArthur". Garvan Institute. Darlinghurst, NSW. Retrieved June 24, 2025.
  7. ^ "ASHG Past Award Recipients". American Society of Human Genetics. Rockville, Maryland. Retrieved June 24, 2025.

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