The identification of novel variants and genes is the fundamental goal of the Broad CMG. Our case review process is designed to select cases that will give us the best chance for gene discovery given available resources.
Various factors are considered when prioritizing cases to accept, including cases with:
• Likely Mendelian cause
• Participants are consented for General Research Use or Health/Medical/Biomedical research. No other restrictions may apply to the data use
• High quality DNA is available
• Detailed phenotype data is available and can be shared with the consortium
• Data is shared with the GREGoR consortium and through NHGRI's controlled access repository AnVIL without an embargo period.
• Prior testing for known genetic causes
• Likely recessive or de novo dominant genetic inheritance (no small dominant families)
• Multiple affected family members available for testing (trios preferred)
• Samples from an under-represented population
• Samples from a disease relevant tissue for RNA-seq (typically muscle or fibroblasts)
• Participants are available to recontact for additional information
• External resources available for CLIA confirmation and return of results