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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...

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Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
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