Daniel MacArthur, Ph.D.



Daniel MacArthur, Ph.D. (MGH/Broad, Analytical and Translational Genetics Unit) leads a research group with a strong focus on developing new methods to predict the effects of sequence changes in protein-coding genes on human phenotypic variation and disease risk. In particular, his research focuses on the use of large-scale genomic technologies and resources to improve the diagnosis of rare neuromuscular diseases. He has substantial experience in large-scale genomic data analysis, both as an active participant in of the 1000 Genomes Project and more recently as coordinator of the Exome Aggregation Consortium (ExAC) at the Broad Institute. ExAC is assembling and analyzing the largest ever collection of human exome data, spanning a total of over 60,000 samples from multiple complex and Mendelian disease consortia, for collaborative gene discovery efforts (exac.broadinstitute.org). His group also focuses on the use of transcriptome sequencing (RNA-seq) in uncovering the functional impact of genetic variation. He chairs the Genotyping Working Group for the GTEx project, a large NIH-funded initiative performing RNA sequencing on multiple tissues from several hundred individuals.