Related Experiment Video
Updated: Apr 26, 2026
09:34
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
36.1K
The dynamic exome: acquired variants as individuals age
Jasmin H Bavarva1, Hongseok Tae, Lauren McIver
1Virginia Bioinformatics Institute, Virginia Tech, Blacksburg, VA 24061, USA.
Aging
|July 27, 2014
Summary
Human genomes are dynamic, accumulating thousands of mutations with age. This genomic variation is linked to age-related diseases, highlighting age as a key factor in personalized genomics.
Area of Science:
- Genomics
- Aging Research
- Molecular Biology
Background:
- Genomic variation is crucial for population studies.
- Aging's impact on tissue-specific genomic changes is largely unknown.
- Environmental and evolutionary factors contribute to genomic variation.
Purpose of the Study:
- To investigate the impact of aging on individual human exomes.
- To characterize age-related genomic changes and their implications.
Main Methods:
- Analysis of human exomes across different age groups.
- Quantification of mutation rates (single nucleotide variants and microsatellite loci).
- Gene pathway association analysis and disease risk enrichment.
Main Results:
- The human genome is dynamic, acquiring 5,000-50,000 mutations with age.
- Identified significant variation rates for nonsynonymous single nucleotide variants and microsatellite loci.
- Mutations affected 3,000-13,000 genes, associated with Wnt signaling and GnRH receptor pathways.
- Enrichment for increased risk of diabetes, kidney failure, cancer, rheumatoid arthritis, and Alzheimer's disease.
Conclusions:
- Age is a critical variable in human genome analysis.
- Age-related genomic changes have significant clinical implications.
- Personalized genomics requires integrating age as a key determinant for individual health insights.
Related Concept Videos
02:26Comparing Copy Number Variations and SNPs
11.5K
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%...
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%...
11.5K
01:27Principles of Pharmacogenetics: Types of Genetic Variants
135
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...
135
01:25Genetic Variation
1.6K
Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles,...
Genes exist in different versions called alleles,...
1.6K
01:30Point and Frameshift Mutations
1.8K
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...
1.8K
01:05Single Nucleotide Polymorphisms-SNPs
14.4K
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,...
14.4K
02:32Exon Recombination
3.1K
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...
Exon shuffling follows “splice frame rules.” Each exon...
3.1K