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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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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.
GWAS does not require the identification of the target gene involved in...
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Genetic Screens02:46

Genetic Screens

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Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
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Translation01:31

Translation

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Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
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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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Incomplete Dominance01:43

Incomplete Dominance

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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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Related Experiment Video

Updated: Jul 6, 2025

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
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Exploring noncoding variants in genetic diseases: from detection to functional insights.

Ke Wu1, Fengxiao Bu1, Yang Wu1

  • 1Institute of Rare Diseases, West China Hospital of Sichuan University, Chengdu, Sichuan 610041, China.

Journal of Genetics and Genomics = Yi Chuan Xue Bao
|January 5, 2024
PubMed
Summary

This review highlights functional noncoding variants in genetic diseases, moving beyond protein-coding changes. Understanding these noncoding regions is key for targeted therapies and personalized medicine.

Keywords:
ChallengeGenetic diseaseNoncoding variationResearch approach

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Area of Science:

  • Genomics
  • Molecular Biology
  • Medical Genetics

Background:

  • Genetic disease research historically focused on protein-coding variations.
  • Noncoding regions of the genome were largely overlooked.
  • Advancements in sequencing and functional genomics enable noncoding variant identification.

Purpose of the Study:

  • To review noncoding variants implicated in genetic diseases.
  • To discuss strategies and technologies for identifying and understanding these variants.
  • To address challenges and propose solutions for studying the noncoding genome.

Main Methods:

  • Systematic review of literature on noncoding variants and genetic diseases.
  • Discussion of high-throughput sequencing technologies.
  • Exploration of functional genomics tools for variant analysis.

Main Results:

  • Noncoding variants can significantly impact gene expression, regulation, and chromatin structure.
  • These variants contribute to the pathogenesis of various genetic diseases.
  • Identification of functional noncoding variants is crucial for disease mechanism elucidation.

Conclusions:

  • Understanding noncoding variants is essential for developing targeted therapies and personalized medicine.
  • The complexity of the noncoding genome presents challenges but also research opportunities.
  • Further research is needed to unravel the genetic basis of rare and complex diseases through noncoding variant analysis.