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Related Concept Videos

Genetic Variation01:25

Genetic Variation

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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,...
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Human Genetics01:28

Human Genetics

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Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
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What is Variation?01:14

What is Variation?

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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...
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Conservative Site-specific Recombination and Phase Variation02:53

Conservative Site-specific Recombination and Phase Variation

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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...
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What is Population Genetics?01:25

What is Population Genetics?

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A population is composed of members of the same species that simultaneously live and interact in the same area. When individuals in a population breed, they pass down their genes to their offspring. Many of these genes are polymorphic, meaning that they occur in multiple variants. Such variations of a gene are referred to as alleles. The collective set of all the alleles within a population is known as the gene pool.
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Variation01:19

Variation

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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...
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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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A Vietnamese human genetic variation database.

Vinh S Le1,2,3, Kien T Tran1, Hoa T P Bui1,2,4

  • 1Vinmec Research Institute of Stem Cell and Gene Technology, Hanoi, Vietnam.

Human Mutation
|June 11, 2019
PubMed
Summary
This summary is machine-generated.

A new Vietnamese human genetic variation database was built using whole genome and exome sequencing of 406 Kinh Vietnamese individuals. This resource provides crucial genetic data for the Vietnamese population, aiding in medical applications and genetic studies.

Keywords:
Asian human genome databaseVietnamese genetic population structureVietnamese human genome databasewhole genome sequencing

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Area of Science:

  • Genomics
  • Population Genetics
  • Bioinformatics

Background:

  • Existing human genome databases are limited for underrepresented populations.
  • Vietnam's large population, predominantly Kinh Vietnamese (KHV), lacks comprehensive genetic variation data.
  • Accurate interpretation of genetic variants in Vietnamese individuals requires a dedicated database.

Purpose of the Study:

  • To establish the first large-scale Vietnamese human genetic variation database.
  • To characterize genetic diversity within the Kinh Vietnamese population.
  • To support genetic research and clinical applications in Vietnam.

Main Methods:

  • Whole genome sequencing of 105 individuals and whole exome sequencing of 200 unrelated Kinh Vietnamese (KHV) individuals.
  • Integration of 101 previously published KHV genomes, totaling 406 KHV genomes.
  • Variant calling and annotation to identify single nucleotide polymorphisms (SNPs) and indels.

Main Results:

  • A comprehensive KHV database comprising 24.81 million variants (22.47 million SNPs, 2.34 million indels).
  • Identification of 0.71 million novel variants.
  • The database captures over 99.3% of variants with a frequency >1% in the KHV population.
  • Discovery of 107 pathogenic variants with a frequency >1% in the KHV population.

Conclusions:

  • The developed KHV genetic variation database is a valuable resource for the Vietnamese population.
  • This database will significantly enhance genetic studies and medical applications in Vietnam.
  • The findings will also benefit genetic research in closely related populations.