A Comprehensive Iterative Approach is Highly Effective in Diagnosing Individuals who are Exome Negative

PURPOSE: Sixty-75% of individuals with rare and undiagnosed phenotypes remain undiagnosed after whole exome sequencing (ES). With standard ES reanalysis resolving 10–15% of the ES negatives, further approaches are necessary to maximize diagnoses in these individuals. METHODS: In 38 ES negative patie...

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Publicat a:Genet Med
Autors principals: Shashi, Vandana, Schoch, Kelly, Spillmann, Rebecca, Cope, Heidi, Tan, Queenie K.-G., Walley, Nicole, Pena, Loren, McConkie-Rosell, Allyn, Jiang, Yong-Hui, Stong, Nicholas, Need, Anna C., Goldstein, David B.
Format: Artigo
Idioma:Inglês
Publicat: 2018
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6295275/
https://ncbi.nlm.nih.gov/pubmed/29907797
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-018-0044-2
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