The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic

AbstractClinical 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.

Source: Genome Medicine - May 26, 2020 Category: Genetics & Stem Cells Source Type: research