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Related Concept Videos

Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
Hardy-Weinberg Principle01:49

Hardy-Weinberg Principle

Diploid organisms have two alleles of each gene, one from each parent, in their somatic cells. Therefore, each individual contributes two alleles to the gene pool of the population. The gene pool of a population is the sum of every allele of all genes within that population and has some degree of variation. Genetic variation is typically expressed as a relative frequency, which is the percentage of the total population that has a given allele, genotype or phenotype.
Principles of Pharmacogenetics: Types of Genetic Variants01:27

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...
Exon Recombination02:32

Exon Recombination

The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
Exon shuffling follows “splice frame rules.” Each exon has three reading...
Gene Evolution - Fast or Slow?02:05

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...
Gene Evolution - Fast or Slow?02:05

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...

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Related Experiment Video

Updated: May 21, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

Human genomic disease variants: a neutral evolutionary explanation.

Joel T Dudley1, Yuseob Kim, Li Liu

  • 1Program in Biomedical Informatics, Stanford University School of Medicine, Stanford, California 94305, USA.

Genome Research
|June 6, 2012
PubMed
Summary

Most human disease variants likely stem from neutral evolution, not adaptive origins. This challenges assumptions and offers a new framework for genomic medicine and objective clinical assessment.

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Area of Science:

  • Evolutionary biology
  • Genomic medicine
  • Human health

Background:

  • Traditional views often assume adaptive evolutionary origins for human diseases.
  • Emerging genomic data challenges these nonempirical assumptions.
  • A unified framework is needed for evolution and modern medicine.

Purpose of the Study:

  • To systematically evaluate claims about adaptive disease origins.
  • To establish a conceptual framework for unifying evolution and medicine.
  • To position the neutral theory of molecular evolution (NTME) as a basis for evaluating disease variants.

Main Methods:

  • Reviewing emerging evidence on disease-associated genomic variations.
  • Applying the neutral theory of molecular evolution (NTME) framework.
  • Analyzing clinical and population genomic data.

Main Results:

  • The NTME explains the origin and distribution of many disease-implicated variants.
  • A majority of disease variants are suggested to have neutral evolutionary origins.
  • A smaller fraction of variants are proposed to have adaptive evolutionary origins.

Conclusions:

  • A neutral evolutionary perspective offers an informative and actionable framework for genomic medicine.
  • This approach enables objective clinical assessment, moving beyond assumptions of past adaptive events.
  • The NTME provides a robust foundation for understanding disease variants in health and medicine.