Development and validation of a whole-exome sequencing test for simultaneous detection of point mutations, indels and copy-number alterations for precision cancer care

We describe Exome Cancer Test v1.0 (EXaCT-1), the first New York State-Department of Health-approved whole-exome sequencing (WES)-based test for precision cancer care. EXaCT-1 uses HaloPlex (Agilent) target enrichment followed by next-generation sequencing (Illumina) of tumour and matched constituti...

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Pubblicato in:NPJ Genom Med
Autori principali: Rennert, Hanna, Eng, Kenneth, Zhang, Tuo, Tan, Adrian, Xiang, Jenny, Romanel, Alessandro, Kim, Robert, Tam, Wayne, Liu, Yen-Chun, Bhinder, Bhavneet, Cyrta, Joanna, Beltran, Himisha, Robinson, Brian, Mosquera, Juan Miguel, Fernandes, Helen, Demichelis, Francesca, Sboner, Andrea, Kluk, Michael, Rubin, Mark A, Elemento, Olivier
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2016
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5539963/
https://ncbi.nlm.nih.gov/pubmed/28781886
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/npjgenmed.2016.19
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