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Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
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Summer highlights from EJHG.

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Video Experimental Relacionado

Updated: Mar 2, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
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Un marco multidimensional para establecer y gestionar un programa de cribado neonatal genómico

Elena Schnabel-Besson1, Nicola Dikow2, Karla Alex3

  • 1Heidelberg University, Medical Faculty of Heidelberg, Center for Pediatric and Adolescent Medicine, Department of Pediatrics I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany.

European journal of human genetics : EJHG
|March 1, 2026
PubMed
Resumen
Este resumen es generado por máquina.

Se desarrolló un nuevo marco con 18 criterios para los programas de cribado neonatal genómico (gNBS). Este marco aborda aspectos clínicos, diagnósticos, terapéuticos y de gestión para mejorar la implementación del gNBS.

Sus antecedentes:

  • El cribado neonatal (NBS) es crucial para la prevención secundaria.
Palabras clave:
cribado neonatal genómicocribado neonatalgenómicasalud públicaética médica

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  • La secuenciación genómica ofrece potencial para ampliar los paneles de NBS (cribado neonatal genómico o gNBS).
  • Los principios de selección de NBS existentes (Wilson y Jungner, 1968) están desactualizados para gNBS.

    • Conclusiones:

    • El marco desarrollado proporciona una base equilibrada para revisar los criterios de cribado de NBS.
    • Apoya el desarrollo de criterios de consenso revisados y aceptados internacionalmente para gNBS.
    • Este marco es esencial para la expansión responsable del cribado neonatal a través de la genómica.