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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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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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在下一代测序时代的遗传咨询

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
概括

下一代测序 (NGS) 推进了儿科疾病检测. 本综述涵盖了NGS的好处,遗传咨询的挑战以及临床应用的伦理考虑.

关键词:
瘤外 (Exoma) 是一种异源 (exome) 是指外源 (exome) 的一个部分.基因面板 基因面板基因组 基因组 基因组基因组 基因组 基因组 基因组 基因组在NGS中排序序列.儿科 儿科 儿科专家组的基因组.儿科医院 (Pediatria) 是一个儿童医院.大规模的测序.

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