Aggregating Data

Multiyear partnership brings together advanced technology, industry expertise and scale to help researchers interpret an unprecedented amount of biomedical data and derive insights to advance the treatment of human diseases

Based on the largest resource of its kind, members of the Exome Aggregation Consortium (ExAC) led by scientists at the Broad Institute of MIT and Harvard report scientific findings from data on the exome sequences (protein-coding portions of the genome) from 60,706 people from diverse ethnic backgrounds. Containing over 10 million DNA variants – many very rare and most identified for the first time – the ExAC dataset is a freely available, high-resolution catalog of human genetic variation that has already made a major impact on clinical research and diagnosis of rare genetic diseases.