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Updated: Jun 27, 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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下一代测序在儿科神经疾病中的实用性:来自南非的经验

Magriet van Niekerk1, Shahida Moosa2,3, Ronald van Toorn1

  • 1Department of Paediatrics and Child Health, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.

European journal of human genetics : EJHG
|May 3, 2024
PubMed
概括

下一代测序 (NGS) 为南非的儿童神经疾病提供了高诊断收益率 (45%),类似于高收入国家. 针对性基因小组对于神经肌肉疾病和性脑病变等特定疾病具有成本效益.

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相关概念视频

Next-generation Sequencing03:00

Next-generation Sequencing

The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
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