Comparison of mRNA Splicing Assay Protocols across Multiple Laboratories: Recommendations for Best Practice in Standardized Clinical Testing

BACKGROUND: Accurate evaluation of unclassified sequence variants in cancer predisposition genes is essential for clinical management and depends on a multifactorial analysis of clinical, genetic, pathologic, and bioinformatic variables and assays of transcript length and abundance. The integrity of...

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Wydane w:Clin Chem
Główni autorzy: Whiley, Phillip J., de la Hoya, Miguel, Thomassen, Mads, Becker, Alexandra, Brandão, Rita, Pedersen, Inge Sokilde, Montagna, Marco, Menéndez, Mireia, Quiles, Francisco, Gutiérrez-Enríquez, Sara, De Leeneer, Kim, Tenés, Anna, Montalban, Gemma, Tserpelis, Demis, Yoshimatsu, Toshio, Tirapo, Carole, Raponi, Michela, Caldes, Trinidad, Blanco, Ana, Santamariña, Marta, Guidugli, Lucia, de Garibay, Gorka Ruiz, Wong, Ming, Tancredi, Mariella, Fachal, Laura, Ding, Yuan Chun, Kruse, Torben, Lattimore, Vanessa, Kwong, Ava, Chan, Tsun Leung, Colombo, Mara, De Vecchi, Giovanni, Caligo, Maria, Baralle, Diana, Lázaro, Conxi, Couch, Fergus, Radice, Paolo, Southey, Melissa C., Neuhausen, Susan, Houdayer, Claude, Fackenthal, Jim, Van Overeem Hansen, Thomas, Vega, Ana, Diez, Orland, Blok, Rien, Claes, Kathleen, Wappenschmidt, Barbara, Walker, Logan, Spurdle, Amanda B., Brown, Melissa A.
Format: Artigo
Język:Inglês
Wydane: 2013
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Article
Dostęp online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4351044/
https://ncbi.nlm.nih.gov/pubmed/24212087
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1373/clinchem.2013.210658
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