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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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Veröffentlicht in:Sci Rep
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2017
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Online Zugang: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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