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1.4 Whole exome sequencing (WES): justification and interpretation 1.4.1 Advantages over panels As mentioned in the introduction, WES enables the comprehensive analysis of ~19,500 protein-coding genes and, depending on the library (e.g., Agilent SureSelect CRE V4), approximately 5,500 additional clinically relevant loci, including splice sites, untranslated regions, lncRNAs, pseudogenes, regulatory elements and mtDNA (Petersen et al., 2017

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Agencia Canaria de Investigacin, Innovacin y Sociedad de la Informacin (ACIISI) del Gobierno de Canarias, project ProID2020010134, Caja Canarias, Project 2019SP43, the State Plan for Scientific, Technical Research and Innovation 20212023 from the Spanish Ministry of Science and Innovation (project PLEC2022-009507) and Spanish Ministry of Economy and Competitiveness (Grant PID2019-105838RB-C31)

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Section 1833(t)(17)(C)(i) of the Act requires measures developed to reflect consensus among affected parties and, to the extent feasible and practicable, shall include measures set forth by one or more national consensus-based entities (not necessarily the contracted CBE)

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How to cite this article : Deri, B

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