The MacArthur lab uses cutting-edge genomic technologies at massive scale to understand the impact of human genetic variation, and to provide answers to families affected by rare genetic diseases.
We lead an international consortium that has assembled ExAC, the world’s largest single collection of sequencing data from human protein-coding gene regions (the exome), spanning 60,706 individuals. We’re mining this massive dataset for insights into human evolution, gene function, and disease risk. Read more →
|rare disease gene discovery
We develop and apply genomic technologies, including exome, whole-genome and RNA sequencing, to improve the diagnosis of rare Mendelian diseases, with a particular focus on neuromuscular disorders. Our tool seqr is an intuitive online portal for exploring exome and whole-genome sequencing data from rare disease families. Read more →
|using gene expression data to interpret variation
Transcriptomic data provide powerful insights into the effects of genetic variation on gene expression and splicing. We use RNA sequencing (RNA-seq) data from muscle disease patients and from hundreds of reference samples to improve variant interpretation. Read more →
Loss-of-function (LoF) variants – genetic variations that destroy the normal function of protein-coding genes – are useful guides to disease gene identification and therapeutic target discovery. We are building new tools for discovering LoF variants, and exploring their impact on the phenotypes of tens of thousands of people. Read more →