Daniel MacArthur, PhD is an Institute Member at the Broad Institute of MIT and Harvard, and co-lead of the Broad’s Center for Mendelian Genomics and Rare Genomes Project.

Dr. MacArthur is a group leader in the Analytic and Translational Genetics Unit at Massachusetts General Hospital and an assistant professor at Harvard Medical School. In this video, he discusses his work as it relates to the extraction of functional information from large-scale genomic data.

The Broad Institute was founded to seize the opportunity that arose from the Human Genome Project — the international effort that successfully deciphered the entire human genetic code. Despite that accomplishment, scientists knew they still lacked a clear understanding of the genetic basis of disease, and how to translate that understanding into more effective prevention, diagnosis, and treatment.

The traditional academic model of individual laboratories working within their specific disciplines was not designed to meet the emerging challenges of biomedicine. To gain a comprehensive view of the human genome and biological systems, they instead had to work in a highly integrated fashion.

MacArthur’s lab seeks to accurately identify DNA variants affecting gene function and human disease risk from large-scale datasets containing genetic information from more than 90,000 human genomes. He also studies transcriptome sequencing (RNA-seq) approaches to better understand the impact of variants on human gene function. His lab leads an international consortium, the Exome Aggregation Consortium (ExAC), that has compiled the largest collection of sequences of the protein-coding region (exome) of the human genome.