Broad Institute

The Broad Institute focuses on improving diagnosis and Mendelian gene discovery through large scale sequencing, methods development, and data sharing. Phenotype areas of high interest include but are not limited to orphan/syndromic, neurodevelopmental, and neuromuscular disorders which come to our center through US and international collaborations with research or clinical groups or through direct to patient recruitment within the US through the Rare Genomes Project. Our approach includes trio exome sequencing, and deeper investigation of exome negative cases with RNAseq, short and long read genome sequencing, application of methods for improved variant detection, CRISPR cell culture models for variants of uncertain significance, data aggregation, and data sharing.