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Un marco práctico para predecir variantes de un solo nucleótido de empalme en la secuenciación del exoma

Yasuhiro Utsuno1, Kohei Hamanaka1, Masamune Sakamoto1,2

  • 1Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.

NAR genomics and bioinformatics
|December 22, 2025
PubMed
Resumen

Creamos un nuevo marco para evaluar fácilmente las variantes de un solo nucleótido de empalme patógenas (SNV) para trastornos mendelianos. Esta herramienta mejora la detección de estas variantes en los datos de secuenciación del exoma.

Palabras clave:
variantes de empalmetrastornos mendelianossecuenciación del exomadiagnóstico genéticobioinformática

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