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Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels
BACKGROUND: With the expanded availability of next generation sequencing (NGS)-based clinical genetic tests, clinicians seeking to test patients with Mendelian diseases must weigh the superior coverage of targeted gene panels with the greater number of genes included in whole exome sequencing (WES)...
Autores principales: | LaDuca, Holly, Farwell, Kelly D., Vuong, Huy, Lu, Hsiao-Mei, Mu, Wenbo, Shahmirzadi, Layla, Tang, Sha, Chen, Jefferey, Bhide, Shruti, Chao, Elizabeth C. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5289469/ https://www.ncbi.nlm.nih.gov/pubmed/28152038 http://dx.doi.org/10.1371/journal.pone.0170843 |
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