The Talkowski lab is involved in the next phase of the 1,000 Genomes Project, which will survey the full spectrum of structural variation using nearly every whole-genome technology available, including custom long-insert whole-genome sequencing.

1000 genomes

Deep clinical grade analysis from a variety of data types in 3 widely studied families. Consensus variant call sets derived from diverse bioinformatics tools.

The Exome Aggregation Consortium (ExAC) is a coalition of investigators seeking to aggregate and harmonize exome sequencing data from a wide variety of large-scale sequencing projects, and to make summary data available for the wider scientific community.


This consortium is a newly developed Mendelian Center at the Broad Institute, led by Dr. Daniel MacArthur and Dr. Heidi Rehm. This project represents an international collaboration to investigate the genetic cause of Mendelian Disorders. Dr. Talkowski’s lab will assist with data analyses and gene discovery, with a particular focus on structural variation.