A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape

We wanted to implement an NGS strategy to globally analyze hereditary cancer with diagnostic quality while retaining the same degree of understanding and control we had in pre-NGS strategies. To do this, we developed the I2HCP panel, a custom bait library covering 122 hereditary cancer genes. We imp...

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Publicado en:Sci Rep
Autores principales: Castellanos, Elisabeth, Gel, Bernat, Rosas, Inma, Tornero, Eva, Santín, Sheila, Pluvinet, Raquel, Velasco, Juan, Sumoy, Lauro, del Valle, Jesús, Perucho, Manuel, Blanco, Ignacio, Navarro, Matilde, Brunet, Joan, Pineda, Marta, Feliubadaló, Lidia, Capellá, Gabi, Lázaro, Conxi, Serra, Eduard
Formato: Artigo
Lenguaje:Inglês
Publicado: Nature Publishing Group 2017
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5209725/
https://ncbi.nlm.nih.gov/pubmed/28051113
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep39348
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