Randomized trial shows diagnostic benefits of whole-genome sequencing in rare disease, suggesting a need for standardized practices.
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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Marshall et al. (2020) studied this question.
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