The Exome Clinic and the Role of Medical Genetics Expertise in Interpretation of Exome Sequencing Results

PURPOSE: Evaluation of the clinician’s role in optimal interpretation of clinical exome sequencing (ES) results. METHODS: Retrospective chart review of the first 155 patients who underwent clinical ES in our Exome Clinic and direct interaction with the ordering geneticist to evaluate the process of...

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Detalhes bibliográficos
Publicado no:Genet Med
Main Authors: Baldridge, Dustin, Heeley, Jennifer, Vineyard, Marisa, Manwaring, Linda, Toler, Tomi L, Fassi, Emily, Fiala, Elise, Brown, Sarah, Goss, Charles W., Willing, Marcia, Grange, Dorothy K, Kozel, Beth A, Shinawi, Marwan
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5581723/
https://ncbi.nlm.nih.gov/pubmed/28252636
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2016.224
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