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Related Concept Videos

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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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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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 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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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.
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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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Mutation, Gene Flow, and Genetic Drift01:09

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In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).
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Related Experiment Video

Updated: Sep 9, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.

Ruchi Jain1, Sami Bizzari2, Sathishkumar Ramaswamy1

  • 1Dubai Health Genomic Medicine Center, Dubai Health, Dubai, United Arab Emirates.

Genetics in Medicine Open
|September 2, 2025
PubMed
Summary

Genetic variations causing rare diseases in Arab populations are understudied. This research identifies key genetic variants and carrier rates to improve screening for recessive disorders in this demographic.

Keywords:
ConsanguinityExome sequencingGenetic variationMiddle EastRare genetic disorders

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Area of Science:

  • Genetics
  • Population Health
  • Medical Genomics

Background:

  • Genetic variation in rare diseases within Arab populations is poorly understood.
  • High consanguinity rates in Arab populations increase the prevalence of recessive disorders.
  • Limited data hinders effective carrier screening strategies for genetic conditions.

Purpose of the Study:

  • To identify and characterize pathogenic (P) and likely pathogenic (LP) variants in Arab Emirati families.
  • To calculate allele frequencies and estimate carrier rates for recessive conditions in the Emirati population.
  • To inform the development of targeted carrier screening programs for rare diseases.

Main Methods:

  • Curated P/LP variants from 1333 Arab Emirati families (internal cohort and literature).
  • Applied American College of Medical Genetics and Genomics/Association for Molecular Pathology guidelines for variant classification.
  • Analyzed P/LP variants in 1194 Emirati exomes to determine allele frequencies and carrier rates.

Main Results:

  • Identified 701 P/LP variants in 1060 families; 52% were absent from gnomAD and 30% from ClinVar.
  • CYP21A2 showed the highest carrier rate (10.6%), followed by HBB (9.6%), MEFV (5.9%), and ABCA4 (4.3%).
  • Estimated at-risk couples rate between 4% and 21% based on a provisional screening gene list.

Conclusions:

  • Highlights the need to identify prevalent diseases in underrepresented populations for public health initiatives.
  • Emphasizes the importance of developing equitable preventive measures, including premarital screening.
  • Underscores the utility of population-specific genetic data for effective carrier screening.