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Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders
Neurodevelopmental disorders (NDDs) affect more than 3% of children and are attributable to single-gene mutations at more than 1000 loci. Traditional methods yield molecular diagnoses in less than one-half of children with NDD. Whole-genome sequencing (WGS) and whole-exome sequencing (WES) can enabl...
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| Publié dans: | Sci Transl Med |
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| Auteurs principaux: | , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
2014
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4286868/ https://ncbi.nlm.nih.gov/pubmed/25473036 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/scitranslmed.3010076 |
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