Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Principles of Pharmacogenetics: Types of Genetic Variants

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...

Genome Copying Errors

Genome Copying Errors

DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their survival. Therefore, the copying errors are checked and repaired at three levels.

Comparing Copy Number Variations and SNPs

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%...

Gene Conversion

Gene Conversion

Other than maintaining genome stability via DNA repair, homologous recombination plays an important role in diversifying the genome. In fact, the recombination of sequences forms the molecular basis of genomic evolution. Random and non-random permutations of genomic sequences create a library of new amalgamated sequences. These newly formed genomes can determine the fitness and survival of cells. In bacteria, homologous and non-homologous types of recombination lead to the evolution of new...

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...

Point and Frameshift Mutations

Point and Frameshift Mutations

Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Genome-wide meta-analysis uncovers novel loci influencing circulating leptin levels.

Nature communications·2016

Same author

A Genome-wide study of blood pressure in African Americans accounting for gene-smoking interaction.

Scientific reports·2016

Same author

The effects of exercise on the lipoprotein subclass profile: A meta-analysis of 10 interventions.

Atherosclerosis·2015

Same author

Genomic and transcriptomic predictors of triglyceride response to regular exercise.

British journal of sports medicine·2015

Same author

Genome-wide association studies suggest sex-specific loci associated with abdominal and visceral fat.

International journal of obesity (2005)·2015

Same author

The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.

PLoS genetics·2015

Search research articles

Related Experiment Video

Updated: Jul 6, 2026

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Published on: August 3, 2018

Genotyping errors and their impact on genetic analysis.

Michael B Miller¹, Karen Schwander, D C Rao

¹Division of Epidemiology and Community Health, School of Public Health, and Institute of Human Genetics, University of Minnesota, Minneapolis, MN 55454, USA.

Advances in Genetics

|March 25, 2008

Summary

This summary is machine-generated.

This study addresses genotyping errors in genetic analyses of complex traits. It explains how marker data can detect and correct errors in familial relationships and genotype classifications, improving genetic study accuracy.

More Related Videos

Infinium Assay for Large-scale SNP Genotyping Applications

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

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

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

Published on: April 4, 2018

Related Experiment Videos

Last Updated: Jul 6, 2026

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Published on: August 3, 2018

Infinium Assay for Large-scale SNP Genotyping Applications

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

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

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

Published on: April 4, 2018

Area of Science:

Genetics
Statistical Genetics
Bioinformatics

Background:

Complex trait genetic dissection relies on accurate phenotypic and genotypic data.
Linkage and association analyses are sensitive to data quality issues.
Genotyping errors can significantly impact genetic study outcomes.

Purpose of the Study:

To identify common genotyping errors in genetic analyses.
To demonstrate how marker data can resolve mis-specified familial relationships and genotype misclassifications.
To discuss the detection, correction, and impact of genotyping errors.

Main Methods:

Utilizing marker data for error detection and correction.
Analyzing phenotypic and genotypic datasets from family and unrelated individual samples.
Evaluating the impact of genotyping errors on genetic analysis results.

Main Results:

Marker data effectively identifies and corrects mis-specified familial relationships.
Genotype misclassifications can be detected and rectified using marker data.
Specific types of genotyping errors demonstrably affect genetic analysis outcomes.

Conclusions:

Accurate genotype data is crucial for reliable genetic dissection of complex traits.
Employing marker data for error checking enhances the validity of genetic analyses.
Addressing genotyping errors improves the precision of genetic findings.