Clinical Validation of a Whole Exome Sequencing Pipeline

Establishing whole exome sequencing (WES) in an accredited clinical diagnostic space is challenging. The validation (as opposed to verification) of an approach that will lead to clinical reports requires adhering to international guidelines and recommendations and developing a robust analytical pipe...

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Autores principales: Prosser, Debra O., Raja, Indu, Kolkiewicz, Kelly, Milano, Antonio, Love, Donald Roy
Formato: Capítulo de libro
Lenguaje:inglés
Publicado: IntechOpen 2020
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Acceso en línea:https://www.intechopen.com/chapters/72817
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