MACARTHUR LAB

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. The MacArthur lab has now moved to Australia! Daniel now directs the new Centre for Population Genomics, based jointly at the Garvan Institute of Medical Research... Our team led an international consortium that assembled gnomAD, the world's largest single collection of sequencing data from human genome sequencing data, currently spanning 141,456 individuals. We've mined this massive dataset for insights into disease variant interpretation, gene discovery, and drug target validation... 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..

Primary location: Boston United States