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Related Concept Videos

Principles of Pharmacogenetics: Types of Genetic Variants01:27

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The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
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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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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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Pharmacogenomics: Identification of New Drug Targets01:29

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Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
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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 Screens02:46

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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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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Genotype-based databases for variants causing rare diseases.

Barbara Lanthaler1, Stefanie Wieser2, Andrea Deutschmann1

  • 1Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.

Gene
|August 12, 2014
PubMed
Summary
This summary is machine-generated.

New genotype variation databases link rare disease genotypes to clinical phenotypes, aiding genetic variant interpretation. These resources include data on genetic modifiers to better understand disease presentation and severity.

Keywords:
ACAD8ACADSBAUHDHCR7FKBP14HMGCS2HSD17B10LOVD 3.0ROGDI

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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Area of Science:

  • Genetics
  • Rare Diseases
  • Bioinformatics

Background:

  • Inherited diseases stem from DNA sequence changes, with recessive conditions arising from variants in both gene copies.
  • Clinical presentation and severity in genetic disorders can vary significantly, influenced by genotype, environmental factors, and genetic modifiers.

Purpose of the Study:

  • To establish publicly accessible genotype variation databases for rare diseases.
  • To link specific genotypes with individual clinical phenotypes and include data on genetic modifiers.
  • To facilitate the interpretation of genetic variants and improve understanding of rare disease variability.

Main Methods:

  • Creation of genotype variation databases for specific rare diseases, including ACAD8, ACADSB, AUH, DHCR7, HMGCS2, HSD17B10, FKBP14, and ROGDI.
  • Inclusion of detailed phenotypic descriptions and biochemical data for identified individuals with gene variants.
  • Incorporation of genetic modifier data, such as maternal APOE and ABCA1 genotypes for DHCR7.

Main Results:

  • Establishment of comprehensive databases detailing genotype-phenotype correlations for selected rare diseases.
  • Databases list multiple occurrences of identical genotypes found in different patients, with associated phenotypic and biochemical data.
  • Inclusion of genetic modifier information, such as maternal genotypes, to explain phenotypic variability.

Conclusions:

  • The developed databases provide crucial public access to genotype-phenotype information for rare diseases.
  • These resources will significantly aid in the interpretation of genetic variants and understanding of disease mechanisms.
  • Ongoing updates based on literature reviews and submitted reports will ensure the databases remain current and comprehensive.