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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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Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
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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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Updated: Jul 2, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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[Cardiogenetics in Germany- a view and review].

E Schulze-Bahr1

  • 1Institut für Genetik von Herzerkrankungen (IfGH), Spezialambulanz für Patienten mit genetischen Herzerkrankungen, Universitätsklinikum Münster (UKM), Domagkstr. 3, 48145, Münster, Deutschland. Eric.Schulze-Bahr@ukmuenster.de.

Herzschrittmachertherapie & Elektrophysiologie
|February 28, 2024
PubMed
Summary

German cardiogenetics has advanced significantly since the 1990s, focusing on genetic causes of inherited heart conditions like arrhythmias and cardiomyopathies for personalized patient care.

Keywords:
Cardiac conduction diseaseCardiogeneticsHistoryIon channel diseasesSinus node dysfunction

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Area of Science:

  • Cardiovascular Medicine
  • Genetics
  • Molecular Biology

Context:

  • The field of cardiogenetics in Germany has seen substantial growth since the mid-1990s.
  • Research is patient- and family-centered, addressing inherited conditions such as arrhythmias and cardiomyopathies.

Purpose:

  • To highlight the progress and key contributions of German cardiogenetics.
  • To emphasize the translational approach from gene identification to clinical application.

Summary:

  • Significant national contributions have been made to understanding Brugada syndrome, short QT syndrome, cardiac conduction disorders, sinus node dysfunction, dilated cardiomyopathy (DCM), and arrhythmogenic right ventricular cardiomyopathy (ARVC).
  • The focus remains on identifying causative genes and elucidating pathomechanisms.

Impact:

  • Implementation of national and international recommendations for cardiogenetic diagnostics into routine cardiological practice.
  • Advancement of personalized care and therapy for patients with inherited cardiac conditions.