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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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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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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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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.
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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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Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
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Updated: Jun 25, 2025

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
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REEV: review, evaluate and explain variants.

Dzmitry Hramyka1, Henrike Lisa Sczakiel2,3,4, Max Xiaohang Zhao1,2,5

  • 1Berlin Institute of Health, Core Unit Bioinformatics, Berlin, Germany.

Nucleic Acids Research
|May 20, 2024
PubMed
Summary
This summary is machine-generated.

REEV is a new, user-friendly platform for evaluating genetic variants in rare disease genetics. It aids clinicians and researchers by automating criteria filling and enabling phenotype similarity measures for faster diagnostic assessment.

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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:

  • Genetics
  • Bioinformatics
  • Medical Informatics

Background:

  • High-throughput sequencing generates vast amounts of genetic data requiring specialized software for clinical interpretation.
  • Accurate clinical evaluation of genetic variants is crucial for diagnosing rare diseases.
  • Existing tools may not fully support the comprehensive interpretation of variants in a clinical setting.

Purpose of the Study:

  • To develop and present REEV (Review, Evaluate and Explain Variants), a user-friendly platform for the clinical evaluation of genetic variants.
  • To facilitate the interpretation of genetic variants for rare disease diagnosis.
  • To provide a tool that assists clinicians and researchers in assessing genetic variants.

Main Methods:

  • Development of a user-friendly software platform aggregating data from public sources.
  • Implementation of semi-automated filling of ACMG (American College of Medical Genetics and Genomics) criteria for variant interpretation.
  • Integration of disease and phenotype data storage for phenotype similarity measures.
  • Comparison of REEV with seven other clinical variant evaluation tools.

Main Results:

  • REEV supports the aggregation of supporting data from public sources.
  • The platform semi-automates the application of ACMG criteria, aiding variant interpretation.
  • REEV enables the storage of case-specific disease and phenotype data for similarity analysis.
  • Users can generate shareable public permanent links for individual variants.

Conclusions:

  • REEV offers a user-friendly solution for the clinical evaluation of genetic variants, particularly in rare disease genetics.
  • The platform streamlines variant interpretation by automating ACMG criteria and facilitating phenotype comparisons.
  • REEV can accelerate the diagnostic assessment of genetic variants in both clinical and research settings.
  • REEV is freely accessible online without requiring a login.