Jove
Visualize
联系我们
JoVE
x logofacebook logolinkedin logoyoutube logo
关于 JoVE
概览领导团队博客JoVE 帮助中心
作者
出版流程编辑委员会范围与政策同行评审常见问题投稿
图书馆员
用户评价订阅访问资源图书馆顾问委员会常见问题
研究
JoVE JournalMethods CollectionsJoVE Encyclopedia of Experiments存档
教育
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab Manual教师资源中心教师网站
使用条款与条件
隐私政策
政策

相关概念视频

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

14.0K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
14.0K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

12.5K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
12.5K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

17.3K
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%...
17.3K

您也可能阅读

相关文章

通过共同作者、期刊和引用图与本文相关的文章。

排序
Same author

SiMSen-Seq STR sequencing across five laboratories enables lowered noise thresholds and improved allele calling.

Forensic science international. Genetics·2026
Same author

Evaluating relationship inference from low-quality DNA using a conditional simulation framework.

Forensic science international. Genetics·2026
Same author

Advancing forensic SNP typing: Insights from an interlaboratory study of the FORCE panel.

Forensic science international. Genetics·2026
Same author

Preparing for shotgun sequencing in forensic genetics - Benchmarking of tools for read mapping, genotype calling, and imputation.

Forensic science international. Genetics·2026
Same author

Swedish population data for 37 autosomal, 12 X-chromosomal and 23 Y-chromosomal STR loci.

International journal of legal medicine·2026
Same author

When DNA leads the way: The introduction of Forensic Investigative Genetic Genealogy in Sweden and its first use in Europe.

Forensic science international. Genetics·2026
Same journal

Tissue MicroRNAs in Arrhythmogenic Cardiomyopathy: A Systematic Review of Studies in Human Myocardium and Animal Models with Implications for Post-Mortem Molecular Diagnostics.

Genes·2026
Same journal

Genetic Variants and Dental Caries Susceptibility: An Umbrella Review and Multilevel Meta-Analysis.

Genes·2026
Same journal

Generative AI and Language Models in Human Genetics and Health: From Variant Interpretation to Clinical Decision Support.

Genes·2026
Same journal

Familial White-Sutton Syndrome Caused by a Pathogenic POGZ p.Arg508* Variant: Intrafamilial Variability from Childhood to Adulthood.

Genes·2026
Same journal

Genetic Influence on LDL-Cholesterol Levels: Role of Polygenic Risk Scores and Lp(a) Beyond Monogenic Hypercholesterolemia.

Genes·2026
Same journal

THBS1 as a Key Regulator of Myoblasts: Validation of Its Inhibitory Roles in Skeletal Muscle Development.

Genes·2026
查看所有相关文章

相关实验视频

Updated: Jun 6, 2025

Infinium Assay for Large-scale SNP Genotyping Applications
13:33

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

38.9K

在法医学中SNP基因型推断-一项性能研究.

Andreas Tillmar1,2, Daniel Kling1,3

  • 1Department of Forensic Genetics and Forensic Toxicology, National Board of Forensic Medicine, SE-58758 Linköping, Sweden.

Genes
|November 27, 2024
PubMed
概括
此摘要是机器生成的。

基因型归算可以通过预测缺失的基因型来改善法医SNP数据集,但准确性取决于数据质量和参考人口. 优化归算是法医应用的关键.

关键词:
法医遗传学 法医遗传学法医调查遗传谱系研究亲属关系分析 亲属关系分析

更多相关视频

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

10.1K
Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
14:06

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

15.2K

相关实验视频

Last Updated: Jun 6, 2025

Infinium Assay for Large-scale SNP Genotyping Applications
13:33

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

38.9K
Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

10.1K
Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
14:06

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

15.2K

科学领域:

  • 法医遗传学 法医遗传学
  • 生物信息学是一种生物信息学.
  • 基因组学就是基因组学.

背景情况:

  • 新兴的法医遗传应用需要密集的SNP基因型数据.
  • 法医DNA经常因为质量和数量问题而缺少基因型.
  • 基因型归算在其他领域已经确立,但在法医学中未得到充分探索.

研究的目的:

  • 在法医背景下评估基因型归算的性能.
  • 在法医遗传学中确定有效的基因型归算的最佳条件.

主要方法:

  • 模拟现实的法医SNP基因型数据集,质量和密度不同.
  • 用Beagle软件进行基因型归算.
  • 通过调用率和在不同设置中的准确性来评估归算性能.

主要成果:

  • 基因型归算显著增加了可用的SNP基因型的数量.
  • 计量准确性受原始数据质量和参考人口特征的影响.
  • 更高的SNP密度和更少的基因型错误与更好的归算准确性相关.

结论:

  • 基因型归算具有增强法医SNP数据集的潜力.
  • 优化归算参数和理解数据限制至关重要.
  • 这些发现支持将基因型归纳纳入法医学遗传工作流程.