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

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 s...

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Detalhes bibliográficos
Publicado no:Genome Med
Main Authors: Marshall, Christian R., Bick, David, Belmont, John W., Taylor, Stacie L., Ashley, Euan, Dimmock, David, Jobanputra, Vaidehi, Kearney, Hutton M., Kulkarni, Shashikant, Rehm, Heidi
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7254704/
https://ncbi.nlm.nih.gov/pubmed/32460895
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-020-00748-z
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