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

Mutation, Gene Flow, and Genetic Drift

Mutation, Gene Flow, and Genetic Drift

In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).

Mutations

Mutations

Mutations

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...

Viral Mutations

Viral Mutations

A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...

Gene Families

Gene Families

Gene families consist of groups of genes proposed to have originated from a common ancestor. Typically these arise through events in which a gene or genes are mistakenly duplicated during cell division. Unlike their parent genes (which are subject to selection pressure to maintain function), these gene copies do not need to preserve their sequences and may evolve at a relatively faster rate.
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...

Gene Evolution - Fast or Slow?

Gene Evolution - Fast or Slow?

The genomes of eukaryotes are punctuated by long stretches of sequence which do not code for proteins or RNAs. Although some of these regions do contain crucial regulatory sequences, the vast majority of this DNA serves no known function. Typically, these regions of the genome are the ones in which the fastest change, in evolutionary terms, is observed, because there is typically little to no selection pressure acting on these regions to preserve their sequences.
In contrast, regions which code...

You might also read

Related Articles

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

Sort by

Same author

Whole metagenome sequencing: not deep enough for complete microbial function recovery.

Microbiome·2026

Same author

16S rRNA sequence captures microbial functional potential.

bioRxiv : the preprint server for biology·2026

Same author

Quantifying uncertainty in protein representations across models and tasks.

Nature methods·2026

Same author

Whole Metagenome Sequencing: not Deep Enough for Complete Microbial Function Recovery.

bioRxiv : the preprint server for biology·2025

Same author

Deciphering enzymatic potential in metagenomic reads through DNA language models.

Nucleic acids research·2025

Same author

Human-Focused Multiparameter Optimization Scores for Rank Ordering Compounds during Early Drug Discovery: Validation of PBPK Models Based on Clinical PK Data.

Journal of medicinal chemistry·2025

Search research articles

Related Experiment Video

Updated: Jan 24, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

Identifying mutation-driven changes in gene functionality that lead to venous thromboembolism.

Yanran Wang¹, Yana Bromberg^1,2

¹Department of Biochemistry and Microbiology, Rutgers University, New Brunswick, New Jersey.

|May 31, 2019

Summary

This summary is machine-generated.

Venous thromboembolism (VTE) risk in African Americans can be predicted using genetic data. Analyzing exome sequencing variants and gene functions improved patient identification, highlighting the importance of genetic factors in VTE.

Keywords:

CAGI function prediction venous thromboembolism warfarin

More Related Videos

Identifying Mutations by High Resolution Melting in a TILLING Population of Rice

Identifying Mutations by High Resolution Melting in a TILLING Population of Rice

Published on: September 2, 2019

Chronic Thromboembolic Pulmonary Hypertension and Assessment of Right Ventricular Function in the Piglet

Chronic Thromboembolic Pulmonary Hypertension and Assessment of Right Ventricular Function in the Piglet

Published on: November 4, 2015

Related Experiment Videos

Last Updated: Jan 24, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

Identifying Mutations by High Resolution Melting in a TILLING Population of Rice

Identifying Mutations by High Resolution Melting in a TILLING Population of Rice

Published on: September 2, 2019

Chronic Thromboembolic Pulmonary Hypertension and Assessment of Right Ventricular Function in the Piglet

Chronic Thromboembolic Pulmonary Hypertension and Assessment of Right Ventricular Function in the Piglet

Published on: November 4, 2015

Area of Science:

Genetics
Hematology
Bioinformatics

Background:

Venous thromboembolism (VTE) is a significant global health issue with potential genetic risk factors.
Previous research on VTE genetic risk has primarily focused on European populations.
The Critical Assessment of Genome Interpretation (CAGI) challenge aimed to differentiate VTE patients from controls using exome data in an African American cohort.

Purpose of the Study:

To evaluate VTE risk prediction in an African American population using exome sequencing data.
To identify effective computational approaches for distinguishing VTE patients based on genetic variants.
To assess the role of variant-driven gene functional changes in VTE pathogenicity.

Main Methods:

Utilized variants from African American VTE association studies and curated VTE genes from DisGeNET.
Developed four distinct computational approaches to assess VTE risk.
Employed k-means clustering on exome vectors represented by predicted functional effect scores of variants within known genes.
A secondary method aggregated variant effect scores to gene-level functional changes.

Main Results:

The best performing method achieved 70.8% precision and 69.7% recall in identifying VTE patients.
The second-best method also demonstrated success by analyzing gene-level functional changes.
These results indicate the predictability of VTE risk within the African American population.

Conclusions:

Genetic variant analysis holds significant potential for predicting VTE risk in African Americans.
Functional consequences of genetic variants are crucial for determining disease status.
Further research is necessary to deepen the understanding of VTE pathogenicity in this population for enhanced predictive accuracy.