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Updated: Jan 13, 2026

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Secuenciación de próxima generación como método aplicable: de la base técnica al uso en diagnóstico médico

Arman Moradi¹, Mina Mousavi², Majid Maleki³

¹Department of Molecular Genetics, Faculty of Biological Sciences, Tarbiat Modares University, Tehran, Iran.

|January 10, 2026

Resumen

La secuenciación de próxima generación (NGS) ofrece un diagnóstico y cribado genético económico desde etapas prenatales hasta el final de la vida. Esta tecnología mejora la medicina personalizada, la farmacogenética y la edición precisa del genoma, mejorando la calidad de vida del paciente.

Área de la Ciencia:

Genómica
Biotecnología

Sus antecedentes:

La secuenciación de próxima generación (NGS) es una tecnología genómica de alto rendimiento.
Los métodos de NGS se han vuelto económicos y oportunos para el diagnóstico y cribado de afecciones genéticas.

Objetivo del estudio:

Revisar el funcionamiento técnico de varios métodos basados en NGS.
Explorar las aplicaciones y beneficios de la NGS en el diagnóstico, cribado, farmacogenética y edición del genoma.

Principales métodos:

Revisión de la literatura existente sobre tecnologías y aplicaciones de NGS.
Explicación técnica de diferentes metodologías basadas en NGS.

Principales resultados:

La NGS permite la detección y el manejo tempranos de enfermedades genéticas, mejorando los resultados de los pacientes.
La NGS facilita la medicina personalizada a través de la farmacogenética y la mejora de la administración de fármacos.
La NGS mejora la precisión y la eficacia de las técnicas de edición del genoma.

Conclusiones:

Los métodos basados en NGS ofrecen beneficios significativos en diagnóstico, cribado, farmacogenética y edición del genoma.
La revisión destaca los aspectos técnicos y la amplia utilidad de la NGS en la medicina moderna.

Palabras clave:

Secuenciación de próxima generación Medicina personalizada Farmacogenética Secuenciación del exoma completo

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