The MacArthur Lab


The MacArthur lab is a group within the Analytic and Translational Genetics Unit, jointly based at Massachusetts General Hospital and the Broad Institute of Harvard and MIT in Boston, USA.

Our research focuses on extracting useful information from human genome sequences. We have four key research goals: 
  • accurately identifying DNA sequence variants from massive-scale data-sets, including the combined analysis of sequence data from over 25,000 human genomes;
  • identifying loss-of-function (LoF) variants - DNA changes that result in the complete obliteration of the normal function of a protein-coding gene - for studies of gene function and human disease risk;
  • taking advantage of transcriptome sequencing (RNA-seq) approaches to better characterize the impact of DNA sequence variants on human gene function; and
  • using genomic approaches (especially exome and transcriptome sequencing) to discover disease-causing mutations in severe disease patients, with a particular focus on neuromuscular diseases such as muscular dystrophy.
We are always looking for talented applicants for both graduate student and postdoctoral positions - contact Daniel for more information.
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