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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...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6295275/ https://www.ncbi.nlm.nih.gov/pubmed/29907797 http://dx.doi.org/10.1038/s41436-018-0044-2 |