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Updated: Jun 4, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Genetic counselling in the era of next generation sequencing

Diego Espada-Musitu1, África Manero-Azua1, Yerai Vado1

  • 1Grupo de investigación en enfermedades raras, Laboratorio de (epi)genética molecular, Instituto de Investigación Sanitaria Bioaraba, Hospital Universitario Araba, Vitoria-Gasteiz, Spain.

Anales De Pediatria
|January 1, 2025
PubMed

Keywords:
ExomaExomeGene panelGenomaGenomeNGS sequencingPaediatricsPanel de genesPediatríaSecuenciación masiva

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