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Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer

Next generation sequencing panels have been developed for hereditary cancer, although there is some debate about their cost-effectiveness compared to exome sequencing. The performance of two panels is compared to exome sequencing. Twenty-four patients were selected: ten with identified mutations (co...

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Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: Feliubadaló, Lídia, Tonda, Raúl, Gausachs, Mireia, Trotta, Jean-Rémi, Castellanos, Elisabeth, López-Doriga, Adriana, Teulé, Àlex, Tornero, Eva, del Valle, Jesús, Gel, Bernat, Gut, Marta, Pineda, Marta, González, Sara, Menéndez, Mireia, Navarro, Matilde, Capellá, Gabriel, Gut, Ivo, Serra, Eduard, Brunet, Joan, Beltran, Sergi, Lázaro, Conxi
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2017
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5209723/
https://ncbi.nlm.nih.gov/pubmed/28050010
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep37984
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