Article
Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.
Scientific reports - 4 Jan 2017
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
Abstract excerpt
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 (control set) and fourteen suspicious of hereditary cancer but with no mutation (discovery set). TruSight Cancer (94...
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