相关实验视频

Updated: May 24, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

25.7K

对于孟德尔乱诊断的RNA测序的临床验证

Sen Zhao1, Kristina Macakova2, Jefferson C Sinson1

  • 1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Medical Genetics and Multiomics Laboratory, Baylor College of Medicine, Houston, TX 77030, USA.

American journal of human genetics
|March 5, 2025
PubMed
概括

一种新的临床诊断RNA测序 (RNA-seq) 测试通过分析基因表达和拼接模式来帮助诊断遗传疾病. 这种经过验证的RNA-seq测试提供了关键的功能数据,以提高当DNA测试不确时的诊断准确性.

关键词:
门德尔氏病是门德尔氏病的一种疾病.有关RNA测序的RNA测序在RNA-seqqq.临床验证 临床验证表达方式表达方式表达方式基因检测 基因检测是指基因检测.分子诊断 分子诊断 分子诊断异常情况分析异常情况分析拼接 拼接 拼接 拼接转录组 (transcriptome) 是一个转录组.

更多相关视频

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

Published on: April 4, 2018

33.4K
Rare Event Detection Using Error-corrected DNA and RNA Sequencing10:36

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Published on: August 3, 2018

12.0K

相关概念视频

RNA-seq03:21

RNA-seq

RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases. 
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while...
9.8K