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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Genet Med
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2017
Gaiak:
Article
Sarrera elektronikoa: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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