The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic. Genome medicine Marshall, C. R., Bick, D., Belmont, J. W., Taylor, S. L., Ashley, E., Dimmock, D., Jobanputra, V., Kearney, H. M., Kulkarni, S., Rehm, H., Medical Genome Initiative 2020; 12 (1): 48


Clinical whole-genome sequencing (WGS) offers clear diagnostic benefits for patients with rare disease. However, there are barriers to its widespread adoption, including a lack of standards for clinical practice. The Medical Genome Initiative consortium was formed to provide practical guidance and support the development of standards for the use of clinical WGS.

View details for DOI 10.1186/s13073-020-00748-z

View details for PubMedID 32460895