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Cuestiones de selección de la lista de genes: diagnósticos perdidos en la secuenciación del exoma prenatal-PanelApp

Victoria Ardiles-Ruesjas^1,2, Laia Rodriguez-Revenga^2,3,4, Montse Pauta¹

¹Fetal Medicine Research Center, BCNatal, Hospital Clínic de Barcelona, Barcelona, Catalonia, Spain.

Prenatal diagnosis

|January 4, 2026

Resumen

No abstract available in PubMed .

Palabras clave:

asesoramiento genético Servicios genéticos pruebas genéticas genética humana enfermedades genéticas congénitas diagnóstico prenatal

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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