相关实验视频

Updated: Jan 15, 2026

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

26.4K

超深度RNA测序在门德尔障碍诊断中的实用性

Sen Zhao1, Jefferson C Sinson1, Shenglan Li1

  • 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
|October 11, 2025
PubMed
概括

超高深度RNA测序 (RNA-seq) 显著提高了罕见拼接异常和低丰度转录的检测,改善了孟德尔病的变体解释. 这种深度测序方法对于准确的基因诊断至关重要.

关键词:
门德尔的障碍 门德尔的障碍 门德尔的障碍最终的基因组学临床RNA测序的临床RNA测序临床上可访问的组织.深度测序是一种深度测序.最低要求的测序深度.测序深度的测序 测序深度的测序拼接变体的拼接变体超深度RNA测序的研究.不确定意义的变体.

更多相关视频

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

9.0K
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

12.6K

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...
11.7K