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  • The Medical Genome Initiati...
    Marshall, Christian R; Bick, David; Belmont, John W; Taylor, Stacie L; Ashley, Euan; Dimmock, David; Jobanputra, Vaidehi; Kearney, Hutton M; Kulkarni, Shashikant; Rehm, Heidi

    Genome medicine, 05/2020, Letnik: 12, Številka: 1
    Journal Article

    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.