Article
Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing.
Clinical chemistry - 1 Feb 2014
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, Hansen Thomas Van Overeem, Vega Ana, Diez Orland, Blok Rien, Claes Kathleen, Wappenschmidt Barbara, Walker Logan, Spurdle Amanda B, Brown Melissa A
Abstract excerpt
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 assay data in turn relies on appropriate assay design, interpretation, and reporting. METHODS: We conducted a...
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