Yale Center for Genome Analysis (YCGA)

The Yale Center for Genome Analysis is a full service facility dedicated to providing RNA expression profiling, DNA genotyping, and high-throughput sequencing using state of the art technologies. The resource is open to both Yale and other non-profit organizations.

Yale Center for Mendelian Genomics

Yale University is home to one of three national centers created by the NIH to study the genetics of rare inherited diseases. Researchers at Yale, the University of Washington, and a center operated jointly by Baylor and Johns Hopkins University will analyze the genomes of thousands of patients who suffer from more than 6,000 rare Mendelian disorders affecting more than 25 million individuals in US.

The Yale Center for Mendelian Genomics received $11.2 million under the four-year program. DNA sequencing for this project will be performed on a collaborative basis at no cost to the investigators at the Yale Center for Genome Analysis. The principal investigators for Yale Center are Richard Lifton, M.D., Ph.D., chair and Sterling Professor of Genetics, HHMI investigator; Murat Gunel, M.D., the Nixdorff-German Professor of Neurosurgery and professor of genetics and neurobiology; Shrikant Mane, Ph.D., director of Yale Center for Genome Analysis and co-Director of Keck Foundation Biotechnology Resource Laboratory; and Mark Gerstein, Ph.D., the Albert L. Williams Professor of Molecular Biophysics and biochemistry and co- director of the Yale Computational Biology and Informatics.

The Centers for Mendelian Genomics  will apply next-generation sequencing and computational approaches to discover the genes and variants that underlie Mendelian disorders. The discovery of new genes that cause Mendelian conditions will expand our understanding about their biology to facilitate their diagnosis, and potentially indicate new treatments.

The Centers for Mendelian Genomics will provide free exome sequencing and analysis to collaborating investigators for qualified phenotypes. If you are interested in working with the CMG to discover the genetic basis of a Mendelian condition, please contact Yale Center (shrikant.mane@yale.edu) for further information.

Note to our Users


YCGA HIPAA Policies for Sample Submission

The YCGA Facility will not accept samples containing protected health information (PHI) or electronic protected health information (ePHI) that is covered under the Health Insurance Portability and Accountability Act of 1996 (HIPAA). Any individually identifiable health information associated with a sample must be removed by the user before the sample will be accepted. Data that is “individually identifiable” includes any of the 18 identifiers that could be used, either alone or in combination with other information, to identify an individual. These identifiers are:

  • Name
  • Address (all geographic subdivisions smaller than state, including street address, city, county, or ZIP code)
  • All elements (except years) of dates related to an individual (including birth date, admission date, discharge date, date of death, and exact age if over 89)
  • Telephone numbers
  • FAX number
  • Email address
  • Social Security number
  • Medical record number
  • Health plan beneficiary number
  • Account number
  • Certificate/license number
  • Vehicle identifiers and serial numbers, including license plate numbers
  • Device identifiers or serial numbers
  • Web URLs
  • IP address
  • Biometric identifiers, including finger or voice prints
  • Full-face photographic images and any comparable images
  • Any other unique identifying number, characteristic, or code
All of the above identifiers must be removed (de-identification) or sufficiently encoded (anonymization) by the user to prevent re-identification of an individual before samples will be accepted.