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

Single Nucleotide Polymorphisms-SNPs

Single Nucleotide Polymorphisms-SNPs

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,...

Genome-wide Association Studies-GWAS

Genome-wide Association Studies-GWAS

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...

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...

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...

Pharmacogenomics: Identification of New Drug Targets

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...

Pleiotropy

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...

You might also read

Related Articles

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

Sort by

Same author

<i>AGAP</i> duplicons associate with structural diversity at Chromosome 10q11.22.

Genome research·2024

Same author

Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.

Annals of neurology·2024

Same author

A familial, telomere-to-telomere reference for human <i>de novo</i> mutation and recombination from a four-generation pedigree.

bioRxiv : the preprint server for biology·2024

Same author

Complete sequencing of ape genomes.

bioRxiv : the preprint server for biology·2024

Same author

Independent expansion, selection, and hypervariability of the <i>TBC1D3</i> gene family in humans.

Genome research·2024

Same author

Visual and auditory attention in individuals with DYRK1A and SCN2A disruptive variants.

Autism research : official journal of the International Society for Autism Research·2024

Search research articles

Related Experiment Video

Updated: Jun 23, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Characterization of six human disease-associated inversion polymorphisms.

Francesca Antonacci¹, Jeffrey M Kidd, Tomas Marques-Bonet

¹Department of Genome Sciences, Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA.

Human Molecular Genetics

|April 23, 2009

Summary

Large inversion polymorphisms in the human genome are difficult to detect. New methods reveal these inversions are less common in Asians and mostly human-specific, with exceptions in great apes.

More Related Videos

In Vivo Modeling of the Morbid Human Genome using Danio rerio

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 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: Jun 23, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

In Vivo Modeling of the Morbid Human Genome using Danio rerio

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 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:

Genomics
Human Genetics
Molecular Cytogenetics

Background:

The human genome exhibits significant genetic variation, including structural variants like inversions.
Inversions are challenging to detect and analyze using standard molecular techniques, limiting our understanding of their prevalence in normal individuals.

Purpose of the Study:

To characterize large inversion polymorphisms in the human genome.
To develop and apply methods for detecting and genotyping these inversions.
To investigate the evolutionary history and population frequency of human inversions.

Main Methods:

Utilized sequence-based, cytogenetic, and genotyping approaches.
Developed a metaphase Fluorescence In Situ Hybridization (FISH)-based assay for inversion genotyping.
Analyzed inversion frequencies in human populations (HapMap) and outgroup great apes.

Main Results:

Characterized six large inversion polymorphisms, some near regions associated with genomic disorders.
Found inversions to be less frequent or absent in Asian populations compared to European and Yoruban populations.
Demonstrated that most large inversions are human-specific, with 17q21.31 and 8p23 inversions being polymorphic in great apes and representing the ancestral state.
Provided evidence that inversions arose on multiple haplotype backgrounds, potentially confounding SNP-based discovery and genotyping.

Conclusions:

Molecular cytogenetics is essential for accurate genotyping of complex inversion polymorphisms.
Human inversions show population-specific frequencies and evolutionary histories.
Understanding inversion polymorphisms is crucial for interpreting genomic variation and its impact on health.