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Updated: Jan 28, 2026

Amplicon Sequencing using the Long-Read Sequencing Technologies
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Amplicon Sequencing using the Long-Read Sequencing Technologies

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扩大遗传代谢疾病的遗传景观,使用长读序列和转录基因分析

Alejandro Soriano-Sexto1, Obdulia Sánchez-Lijarcio1, Leonardo Beccari2

  • 1Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular, Universidad Autónoma de Madrid, CIBERER, IdiPAZ, Madrid, Spain.

European journal of human genetics : EJHG
|January 26, 2026
PubMed
概括

长读测序 (LRS) 与功能遗传试验相结合,可以有效地诊断具有挑战性的遗传代谢疾病 (IMD). 这种方法可以识别新的致病变体,扩大罕见病 (RD) 的诊断能力.

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