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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Bibliographic Details
Main Authors: Alberto Ferrarini, Luciano Xumerle, Francesca Griggio, Marianna Garonzi, Chiara Cantaloni, Cesare Centomo, Sergio Marin Vargas, Patrick Descombes, Julien Marquis, Sebastiano Collino, Claudio Franceschi, Paolo Garagnani, Benjamin A Salisbury, John Max Harvey, Massimo Delledonne
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2015-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4492948?pdf=render