En cuanto a la validación de la aplicabilidad de la NGS para un diagnóstico clínico, se obtuvo una sensibilidad superior al 99% en cuanto a su validación mediante la secuenciación Sanger. Nuestros resultados son similares a los mostrados por Hamilton y colaboradores en 2016 donde validaron 919 variantes identificadas previamente por secuenciación Sanger y un 97.3% cuando realizaron exomas (138).
En términos de eficacia diagnóstica, ésta es dependiente de la patología mostrada por el paciente. En los datos obtenidos en este estudio, se alcanzó un valor del 50% de eficacia diagnostica para muestras de individuos afectados con fenotipos que se encontraban representados en el panel. Estos datos son similares a los mostrados por Lopes et al, (139). para un panel de cardiomiopatía hipertrófica de 43 genes.
161
Conclusiones
162 Conclusiones
1. Se han probado diferentes sistemas de enriquecimieto, distintos métodos de preparación de librerías para NGS, con diferentes aparatos de secuenciación masiva , demostrando que los paneles personalizados tienen las propiedades técnicas idóneas para una efectiva implantación en el diagnóstico de cardiopatías congénitas humanas.
2. Se ha desarrollado una metodología para caracterizar los puntos de rotura e inserción de los CNVs
3. Se ha implantado un flujo de trabajo que permite relizar de una manera coste efectivo un mejor diagnostico genético de enfermedades relacionadas con las cardiopatías congénitas humanas. 4. La sensibilidad de la técnica es superior al 99% para la detección de variantes implicadas en las
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