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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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Incomplete Dominance01:43

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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.
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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.
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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 Lingo01:11

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Overview
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Genome-wide Association Studies-GWAS01:11

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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Updated: Oct 19, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Genetic variant interpretation: a primer for clinicians.

Varun Kaushik1,2, John-Paul Plazzer2, Ingrid Winship3,4

  • 1The Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Melbourne, Victoria, Australia.

Internal Medicine Journal
|September 20, 2021
PubMed
Summary

Genetic variant interpretation is crucial for diagnosing and managing hereditary disorders. Understanding this process, exemplified by Lynch syndrome research, aids clinicians in utilizing genetic testing effectively.

Keywords:
Lynch syndromefamilial cancergenetic interpretationmismatch repair

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Area of Science:

  • Genetics
  • Clinical Diagnostics
  • Bioinformatics

Background:

  • Genetic testing is increasingly accessible to non-specialists.
  • Genetic reports result from extensive collaborative efforts.
  • Accurate genetic variant interpretation is key for clinical utility.

Purpose of the Study:

  • To explain advances in genetic variant interpretation for practicing clinicians.
  • To highlight the importance of genetic variant interpretation in heritable disorders.
  • To use Lynch syndrome as a case study for understanding genetic variation.

Main Methods:

  • Review of collaborative efforts in genetic research and database curation.
  • Analysis of genetic variant interpretation principles.
  • Case study focusing on mismatch repair genes and Lynch syndrome.

Main Results:

  • Clinicians can gain a nuanced understanding of genetic variant interpretation.
  • Advances facilitate the diagnosis and management of genetic diseases.
  • Understanding variation in mismatch repair genes improves Lynch syndrome insights.

Conclusions:

  • Enhanced understanding of genetic variant interpretation empowers clinicians.
  • Genetic variant interpretation is fundamental to modern diagnostics.
  • This knowledge is vital for managing hereditary conditions like Lynch syndrome.