ExAC

ExAC v1.0 published in Nature (Lek et al., 2016), analyzing exome data from 60,706 individuals. This landmark resource cataloged over 10 million variants, established allele frequency filters for clinical variant interpretation, and demonstrated that most genes are extremely tolerant of loss-of-function variation. The ExAC browser became the de facto standard for variant annotation.

Exome Aggregation Consortium (ExAC) launched at the Broad Institute with exome data from 61,486 individuals across multiple disease-specific and population genetic studies. Provided the first comprehensive reference of population genetic variation, transforming variant interpretation in medical genetics.