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The Use of Non-Variant Sites to Improve the Clinical Assessment of Whole-Genome Sequence Data
Genetic testing, which is now a routine part of clinical practice and disease management protocols, is often based on the assessment of small panels of variants or genes. On the other hand, continuous improvements in the speed and per-base costs of sequencing have now made whole exome sequencing (WE...
Autores principales: | Ferrarini, Alberto, Xumerle, Luciano, Griggio, Francesca, Garonzi, Marianna, Cantaloni, Chiara, Centomo, Cesare, Vargas, Sergio Marin, Descombes, Patrick, Marquis, Julien, Collino, Sebastiano, Franceschi, Claudio, Garagnani, Paolo, Salisbury, Benjamin A., Harvey, John Max, Delledonne, Massimo |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4492948/ https://www.ncbi.nlm.nih.gov/pubmed/26147798 http://dx.doi.org/10.1371/journal.pone.0132180 |
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