Article
The Use of Non-Variant Sites to Improve the Clinical Assessment of Whole-Genome Sequence Data.
PloS one - 1 Jan 2015
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
Abstract excerpt
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 (WES) and whole genome sequencing (WGS) viable strategies for targeted or complete genetic analysis, respectively....
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