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Daniel MacArthur is a geneticist with a long-standing focus on the use of large-scale genomic data sets to improve the interpretation of human genetic variation, with a special focus on rare disease diagnosis. He led the formation of the Exome Aggregation Consortium (ExAC), a collection of sequence data from over 60,000 people, which has become a critical resource in clinical genetics. He also co-directs the Broad Institute's Center for Mendelian Genomics, and has led the sequencing of over 3,000 members of families affected by rare disease. He has over 15 years of experience in human genetics, including a . from the University of Sydney, Australia, and postdoctoral training in genomics at the Wellcome Trust Sanger Institute in Cambridge, UK.

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