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Related Concept Videos

Mutations01:39

Mutations

Overview
Mutations01:35

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...
Mutations01:39

Mutations

Overview
Human Virome01:26

Human Virome

The human body harbors a vast and diverse viral community known as the human virome. The virome includes bacteriophages that infect bacteria, and eukaryotic viruses that infect human cells. Transient dietary and environmental viruses also contribute to this dynamic ecosystem. Estimates suggest the human body may contain on the order of 10¹³ viral particles, though abundance varies widely by body site and detection method.Comprehensive characterization of the virome has become possible only with...
In-vitro Mutagenesis01:16

In-vitro Mutagenesis

To learn more about the function of a gene, researchers can observe what happens when the gene is inactivated or “knocked out,” by creating genetically engineered knockout animals. Knockout mice have been particularly useful as models for human diseases such as cancer, Parkinson’s disease, and diabetes.

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Related Experiment Video

Updated: Jun 12, 2026

Single-Cell RNA Sequencing of Mutant Whole Mouse Embryos: From the Epiblast to the End of Gastrulation
09:14

Single-Cell RNA Sequencing of Mutant Whole Mouse Embryos: From the Epiblast to the End of Gastrulation

Published on: June 14, 2024

Revealing the human mutome.

J M Chen1, C Férec, D N Cooper

  • 1Etablissement Français du Sang (EFS) - Bretagne, Brest, France. jian-min.chen@univ-brest.fr

Clinical Genetics
|June 24, 2010
PubMed
Summary
This summary is machine-generated.

Identifying novel genetic variants is crucial for understanding inherited diseases. Advanced sequencing technologies like whole-genome sequencing (WGS) are revolutionizing medical genetics by uncovering the full human genome

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In Vivo Modeling of the Morbid Human Genome using Danio rerio
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Characterizing Mutational Load and Clonal Composition of Human Blood
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Characterizing Mutational Load and Clonal Composition of Human Blood

Published on: July 11, 2019

Related Experiment Videos

Last Updated: Jun 12, 2026

Single-Cell RNA Sequencing of Mutant Whole Mouse Embryos: From the Epiblast to the End of Gastrulation
09:14

Single-Cell RNA Sequencing of Mutant Whole Mouse Embryos: From the Epiblast to the End of Gastrulation

Published on: June 14, 2024

In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

Characterizing Mutational Load and Clonal Composition of Human Blood
07:58

Characterizing Mutational Load and Clonal Composition of Human Blood

Published on: July 11, 2019

Area of Science:

  • Genetics
  • Medical Genetics
  • Genomics

Background:

  • Over 100,000 mutations in human nuclear genes are linked to inherited diseases, yet this represents a fraction of the total 'mutome'.
  • Current mutation screening methods are inadequate for identifying all clinically relevant genetic variants.
  • Next-generation sequencing, particularly whole-genome sequencing (WGS), offers a paradigm shift in medical genetics.

Purpose of the Study:

  • To explore potential locations of overlooked disease-causing genetic variants outside of gene-coding sequences.
  • To guide improved mutation-screening strategies and enhance the interpretation of genome-wide study findings.
  • To advance the understanding of the human mutome and its role in inherited diseases.

Main Methods:

  • Reviewing recent advances in understanding mutational and pathogenic mechanisms.
  • Analyzing potential locations of disease-associated variants beyond coding regions.
  • Integrating findings with existing data from genome-wide association studies (GWAS) and whole-exome sequencing (WES).

Main Results:

  • Disease-causing variants are likely located in non-coding regions, frequently missed by current screening protocols.
  • Understanding these variants is key to improving diagnostic accuracy and interpreting complex genetic data.
  • Advances in sequencing are expanding the known landscape of the human mutome.

Conclusions:

  • Improved mutation-screening strategies are needed to identify variants in non-coding genomic regions.
  • A comprehensive understanding of the human mutome will enhance diagnostic testing and fundamental human genome biology.
  • WGS and related technologies are essential for a complete picture of genetic variation in disease.