Related Experiment Video
Updated: Jan 31, 2026
04:36
Comet Assay to Quantify DNA Damage in FLT3 Mutant-expressing 32D Cells after Exposure to Type I and Type II FLT3 Inhibitors
Published on: October 17, 2025
959
Systematics for types and effects of DNA variations
1Department of Experimental Medical Science, Lund University, BMC B13, SE-22184, Lund, Sweden. mauno.vihinen@med.lu.se.
BMC Genomics
|December 29, 2018
Summary
The Variation Ontology (VariO) standardizes descriptions of DNA variations and their effects. This systematic approach ensures clear communication and data integration for both humans and computers in genetic research.
Area of Science:
- Genomics
- Bioinformatics
- Molecular Biology
Background:
- DNA variations are diverse with varied effects.
- The Variation Ontology (VariO) was created for systematic descriptions of variations and their effects at DNA, RNA, and protein levels.
Purpose of the Study:
- To describe the use and terms of the Variation Ontology (VariO) for DNA variations.
- To present the principles of VariO with examples from published literature and databases.
Main Methods:
- Systematic nomenclature for variation types.
- Detailed descriptions of changes in DNA function, structure, and properties.
- Application of VariO terms to local DNA changes, chromosome variants, chromatin alterations, and genomic changes.
Main Results:
- VariO provides systematic names and detailed descriptions for DNA variation types.
- Examples illustrate VariO's application to human diseases and various genetic alterations.
- VariO encompasses local DNA changes, chromosomal structural variants, chromatin alterations, and genomic changes.
Conclusions:
- Standardized DNA variation systematics enable unambiguous descriptions.
- Facilitates data reuse and integration from diverse sources.
- Enhances data accessibility for both human researchers and computational systems.
Related Concept Videos
02:53Conservative Site-specific Recombination and Phase Variation
6.8K
Because the DNA segments are cut and reorganized in a direction-specific manner, site-specific recombination has emerged as an efficient genetic engineering technique. Flippase and Cyclization recombinases or Flp and Cre, respectively, are two members of the tyrosine recombinase family derived from bacteriophages, that are used to mediate site-specific DNA insertions, deletions, and targeted expression of proteins in mammalian cell lines.
The recognition sites for Cre recombinase called LoxP...
The recognition sites for Cre recombinase called LoxP...
6.8K
01:14What is Variation?
18.4K
Apart from the measures of central tendency, distribution, outliers, and the changing characteristics of data with time, an important characteristic of any data set is its variation or spread. In some data sets, the data values are concentrated closely near the mean; in others, the data values are more widely spread out from the mean.
The range, standard deviation, standard error, and variance are the different measures of variation.
Range: The range is the difference between its maximum and...
The range, standard deviation, standard error, and variance are the different measures of variation.
Range: The range is the difference between its maximum and...
18.4K
01:19Variation
8.0K
An important characteristic of any set of data is the variation in the data. In some data sets, the data values are concentrated closely near the mean; in other data sets, the data values are more widely spread out from the mean. The most common measure of variation, or spread, is the standard deviation, which is the square root of variance.
When independent and dependent variables are plotted on a scatter plot, the slope of a line is a value that describes the rate of change between the two...
When independent and dependent variables are plotted on a scatter plot, the slope of a line is a value that describes the rate of change between the two...
8.0K
01:18Variation of Atmospheric Pressure
4.1K
Change in atmospheric pressure with height is particularly interesting. The decrease in atmospheric pressure with increasing altitude is due to the decreasing gravitational force per unit area as we move away from the surface of the earth.
Assuming the air temperature is constant at a given altitude and that the ideal gas law of thermodynamics describes the atmosphere to a good approximation, one can find the variation of atmospheric pressure with height.
Let p(y) be the atmospheric pressure at...
Assuming the air temperature is constant at a given altitude and that the ideal gas law of thermodynamics describes the atmosphere to a good approximation, one can find the variation of atmospheric pressure with height.
Let p(y) be the atmospheric pressure at...
4.1K
02:26Comparing Copy Number Variations and SNPs
18.7K
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%...
18.7K
01:20Random and Systematic Errors
14.9K
Scientists always try their best to record measurements with the utmost accuracy and precision. However, sometimes errors do occur. These errors can be random or systematic. Random errors are observed due to the inconsistency or fluctuation in the measurement process, or variations in the quantity itself that is being measured. Such errors fluctuate from being greater than or less than the true value in repeated measurements. Consider a scientist measuring the length of an earthworm using a...
14.9K