Genome Med. 2020 May 27;12(1):48. doi: 10.1186/s13073-020-00748-z.
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.
PMID:32460895 | PMC:PMC7254704 | DOI:10.1186/s13073-020-00748-z