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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.
GWAS does not require the identification of the target gene involved in...
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Human Genetics01:28

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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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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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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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Comparing Copy Number Variations and SNPs02:26

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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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Related Experiment Video

Updated: Oct 19, 2025

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
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Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

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From variant to function in human disease genetics.

Tuuli Lappalainen1,2, Daniel G MacArthur3,4,5

  • 1Science for Life Laboratory, Department of Gene Technology, KTH Royal Institute of Technology, Stockholm, Sweden.

Science (New York, N.Y.)
|September 23, 2021
PubMed
Summary
This summary is machine-generated.

Understanding how genetic variants impact health is key. New functional interpretation methods are improving disease diagnosis, risk prediction, and therapy development for human genetics.

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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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Area of Science:

  • Human genetics
  • Molecular biology
  • Genomic medicine

Background:

  • The primary challenge in human genetics is elucidating the biological mechanisms linking genetic variants to phenotypes and disease risk.
  • Advancements in functional variant interpretation are crucial for transforming disease diagnosis, risk prediction, and therapeutic development.

Purpose of the Study:

  • To discuss the rationale, approaches, applications, and future outlook for characterizing the molecular and cellular effects of genetic variants.
  • To highlight the transformative potential of new methods in functional variant interpretation.

Main Methods:

  • Utilizing patient tissue samples and in vitro models to characterize variant impact at scale.
  • Applying diverse methods to dissect variant mechanisms across various human cell types and environments.
  • Deploying these approaches in clinical settings for broader application.

Main Results:

  • New methods are enabling the characterization of variant impact across a wide range of human cell types and environments.
  • These functional genomics approaches are increasingly integrated into clinical practice.
  • The study provides a comprehensive overview of current and future directions in variant effect characterization.

Conclusions:

  • Improved functional variant interpretation is essential for advancing human genetics and precision medicine.
  • The integration of novel methods into clinical settings promises significant improvements in patient care.
  • Continued research and development in characterizing genetic variant effects will drive future breakthroughs in disease understanding and treatment.