相关实验视频

Updated: May 24, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

9.6K

快速,可靠和可解读的复制号变异选可视化用于SeeNV的诊断设置

Michael S Bradshaw1, Jishnu Raychaudhuri1, Lachlan Murphy1

  • 1Department of Computer Science, University of Colorado Boulder, Boulder, Colorado.

The Journal of molecular diagnostics : JMD
|March 5, 2025
PubMed
概括

SeeNV是一个新的工具,可以帮助研究人员快速准确地检查使用全外因子测序发现的副本数变异 (CNV). 这种自动化提高了临床诊断中遗传变异分析的可靠性.

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
Detection of Rare Mutations in CtDNA Using Next Generation Sequencing11:11

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

Published on: August 24, 2017

16.7K

相关概念视频

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
17.0K