A copy of this work was available on the public web and has been preserved in the Wayback Machine. The capture dates from 2020; you can also visit the original URL.
The file type is application/pdf.
The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic
2020
Genome Medicine
Preserved Fulltext
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.
doi:10.1186/s13073-020-00748-z
pmid:32460895
fatcat:tud5oc5ogja27he6uh4o2lydji