The central goals of the Center are: to discover new genes underlying Mendelian diseases; to develop collaborative networks of investigators to facilitate gene discovery, validation and follow up; and to generate new methods for gene discovery applicable across a wide spectrum of rare disorders.
CMG provides sequencing at no cost to collaborators for families affected by Mendelian diseases.
Through our Broad-developed seqr software, we will provide an online portal allowing collaborators the ability to analyze their own data, alongside the Broad’s reference. Click here to access seqr.
Connection to Others
CMG will also support generation of manuscripts reporting novel genes by providing publication-quality text and figures, connecting collaborators with sources of additional cases with mutations in the same gene, and creating a network of investigators capable of functional validation of newly discovered genes.
High Quality Sequencing
Samples are sequenced at the Broad Institute’s Genomics Platform, which produces high quality data.
CMG samples sequenced at the Broad will be jointly called using our best-in-class GATK variant calling pipeline and alongside the gnomAD callset such that the same QC approaches are used on CMG data.
Our analysts will work closely with collaborators in exploring the data and providing candidate and likely casual variants, and will work in tandem with your team to discuss challenging cases.
Disease Areas of Focus
We emphasize recruitment of cases from seven major disease areas: retinal disease, primary muscle disease, neurodevelopmental disorders, blood, orphan disease, cardiac disease, and kidney diseases – but also welcome cases from other disease areas.