相关实验视频

Updated: May 11, 2025

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

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[下一代测序在新生儿疾病早期查中的临床应用]

Li-Hong Jiang1, Ben-Qing Wu1, Zheng-Yan Zhao

  • 1Department of Pediatrics, Shenzhen Guangming District People's Hospital, Shenzhen, Guangdong 518000, China.

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
|April 17, 2025
PubMed
概括

下一代测序 (NGS) 通过补充双重质谱法 (MS/MS) 来显著提高新生儿疾病查. 这种遗传方法提高了遗传代谢障碍的检测率,并使单一性疾病的确切诊断成为可能.

关键词:
基因查是一种基因查.遗传性代谢障碍是一种遗传性代谢障碍.新生儿查 新生儿查新生儿新生儿新生儿协奏式质谱测量 质谱测量

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease09:34

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

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Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies13:24

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

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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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