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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Veröffentlicht in:PLoS One
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: Public Library of Science 2015
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Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4492948/
https://ncbi.nlm.nih.gov/pubmed/26147798
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0132180
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