Genome Medicine (May 2020)
The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic
Abstract
Abstract 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.
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