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Daniel MacArthur

Professor Daniel MacArthur

Role
Director Centre for Population Genomics

Professor Daniel MacArthur is the Director of the Centre for Population Genomics, established to solve the critical scientific, regulatory, and technical problems currently limiting the development of genomic medicine in Australia, and execute large-scale projects that will establish Australia’s leadership in this field.

Daniel previously served as Co-Director of the Medical and Population Genetics Program at the Broad Institute of MIT and Harvard, and headed up a team jointly based at the Broad Institute, Massachusetts General Hospital, and Harvard Medical School. He co-directed the Broad Institute's Centre for Mendelian Genomics, which has sequenced and analysed genomic data from over 10,000 individuals from rare disease families and contributed to the discovery of more than 100 new rare disease genes.

He also led the development of the Genome Aggregation Database (gnomAD), the largest and most widely-used data set of human exome and genome sequence data, which has collated data from over 140,000 sequenced individuals.

Selected publications

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  • 2024
    The New England Journal of Medicine10.1056/NEJMoa2314761

    Genome Sequencing for Diagnosing Rare Diseases.

    Monica H Wojcik, Gabrielle Lemire, Eva Berger, Maha S Zaki, Mariel Wissmann, Wathone Win, Susan M White, Ben Weisburd, Dagmar Wieczorek, Leigh B Waddell, Jeffrey M Verboon, Grace E VanNoy, Ana Töpf, Tiong Yang Tan, Steffen Syrbe, Vincent Strehlow, Volker Straub, Sarah L Stenton, Hana Snow, Moriel Singer-Berk, Josh Silver, Shirlee Shril, Eleanor G Seaby, Ronen Schneider, Vijay G Sankaran, Alba Sanchis-Juan, Kathryn A Russell, Karit Reinson, Gianina Ravenscroft, Maximilian Radtke, Denny Popp, Tilman Polster, Konrad Platzer, Eric A Pierce, Emily M Place, Sander Pajusalu, Lynn Pais, Katrin Õunap, Ikeoluwa Osei-Owusu, Henry Opperman, Volkan Okur, Kaisa Teele Oja, Melanie O'Leary, Emily O'Heir, Chantal F Morel, Andreas Merkenschlager, Rhett G Marchant, Brian E Mangilog, Jill A Madden, Daniel MacArthur, Alysia Lovgren, Jordan P Lerner-Ellis, Jasmine Lin, Nigel Laing, Friedhelm Hildebrandt, Julia Hentschel, Emily Groopman, Julia Goodrich, Joseph G Gleeson, Roula Ghaoui, Casie A Genetti, Janina Gburek-Augustat, Hanna T Gazda, Vijay S Ganesh, Mythily Ganapathi, Lyndon Gallacher, Jack M Fu, Emily Evangelista, Eleina England, Sandra Donkervoort, Stephanie DiTroia, Sandra T Cooper, Wendy K Chung, John Christodoulou, Katherine R Chao, Liam D Cato, Kinga M Bujakowska, Samantha J Bryen, Harrison Brand, Carsten G Bönnemann, Alan H Beggs, Samantha M Baxter, Tobias Bartolomaeus, Pankaj B Agrawal, Michael Talkowski, Christina Austin-Tse, Rami Abou Jamra, Heidi L Rehm, Anne O'Donnell-Luria
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