Welcome to the Broad Center for Mendelian Genomics, a collaborative community focused on gene discovery.

Our Mission

The goal of the CMG program is to discover new genes that underlie Mendelian diseases. To that end, our Center applies large-scale genomic methods - exome, whole-genome and transcriptome sequencing - to thousands of undiagnosed rare disease families. Our approach to gene discovery is characterized by deep interactions between our informatics team and clinical collaborators, using a secure online analysis platform, seqr, and by rapid and open sharing of resources and data with the wider rare disease community.

Learn about our disease areas of focus


Retinal

Muscle

Neurodevelopmental

Orphan

Cardiac

Kidney

An open source software platform for rare disease genomics

Next Generation Sequencing (NGS) is a powerful diagnostic and research tool for Mendelian disease, but without proper tools, this data can be inaccessible to researchers. We are developing seqr as an open source web interface to make research productive, accessible, and user-friendly while leveraging resources and infrastructure at the Broad Institute.

Stories that inspire us

Join the community

Learn more about the researchers, clinicians, and partners working to improve Mendelian Disease gene discovery.