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Related Concept Videos

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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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%...
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Single Nucleotide Polymorphisms-SNPs01:05

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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,...
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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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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
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CNV analysis in the Lithuanian population.

A Urnikyte1, I Domarkiene2, S Stoma3

  • 1Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Santariskiu St. 2, LT-08661, Vilnius, Lithuania. alina.urnikyte@mf.vu.lt.

BMC Genetics
|May 5, 2016
PubMed
Summary

This study characterized copy number variations (CNVs) in the Lithuanian population, revealing shared genetic profiles between ethnolinguistic groups and identifying novel CNVs. The findings contribute to a more comprehensive understanding of genomic diversity.

Keywords:
CNVCNVRsCopy number variationLITGEN project

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Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

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Area of Science:

  • Human Genetics
  • Genomic Diversity
  • Population Genetics

Background:

  • Limited understanding of copy number variation (CNV) occurrence and distribution across populations.
  • CNVs play a crucial role in human genetic diversity and disease susceptibility.
  • Investigating CNVs in underrepresented populations is essential for a complete genomic map.

Purpose of the Study:

  • To characterize the diversity and distribution of CNVs in the Lithuanian population.
  • To compare CNV profiles between the Aukštaičiai and Žemaičiai ethnolinguistic groups.
  • To identify novel CNVs specific to the Lithuanian population.

Main Methods:

  • Utilized Illumina 770K HumanOmniExpress arrays for genotyping.
  • Analyzed data using Illumina GenomeStudio™ Genotyping Module and cnvPartition/QuantiSNP algorithms.
  • Examined CNVs in 286 unrelated individuals from two Lithuanian ethnolinguistic groups.

Main Results:

  • Identified 478 autosomal CNVs clustered into 87 copy number variation regions (CNVRs), spanning ~12.5 Mb.
  • Found that 8.6% of CNVRs were novel, not previously reported in the Database of Genomic Variants.
  • Observed that 49% of CNVRs were shared between the two groups, indicating Lithuanian population homogeneity; 66% of CNVs overlapped with known gene regions.

Conclusions:

  • Lithuanian ethnolinguistic groups exhibit homogeneous CNV profiles, suggesting limited differentiation.
  • Identified putative novel CNVs unique to the Lithuanian population.
  • Enhanced the existing CNV map for the Lithuanian population, contributing valuable genomic data.