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Related Concept Videos

Epistasis Analysis01:09

Epistasis Analysis

Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...
Genome Annotation and Assembly03:36

Genome Annotation and Assembly

The genome refers to all of the genetic material in an organism. It can range from a few million base pairs in microbial cells to several billion base pairs in many eukaryotic organisms. Genome assembly refers to the process of taking the DNA sequencing data and putting it all back together in a correct order to create a close representation of the original genome. This is followed by the identification of functional elements on the newly assembled genome, a process called genome annotation.
Genetic Screens02:46

Genetic Screens

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
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
Genetic Variation01:25

Genetic Variation

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, which...
Genetics of Speciation02:16

Genetics of Speciation

Speciation is the evolutionary process resulting in the formation of new, distinct species—groups of reproductively isolated populations.The genetics of speciation involves the different traits or isolating mechanisms preventing gene exchange, leading to reproductive isolation. Reproductive isolation can be due to reproductive barriers that have effects either before or after the formation of a zygote. Pre-zygotic mechanisms prevent fertilization from occurring, and post-zygotic mechanisms...
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Genetic Analysis Workshop 16: introduction to workshop summaries.

Jean W MacCluer1, Christopher I Amos, Peter K Gregersen

  • 1Department of Genetics, Southwest Foundation for Biomedical Research, San Antonio, Texas 78227-5301, USA. jean@sfbrgenetics.org

Genetic Epidemiology
|November 20, 2009
PubMed
Summary
This summary is machine-generated.

Genetic Analysis Workshop 16 focused on single-nucleotide polymorphism data analysis challenges. Experts shared methods for analyzing genome-wide scans and genetic data from rheumatoid arthritis and cardiovascular studies.

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Area of Science:

  • Genetics
  • Bioinformatics
  • Statistical Genetics

Background:

  • Genetic Analysis Workshop 16 (GAW16) convened to address challenges in analyzing single-nucleotide polymorphism (SNP) data.
  • The workshop focused on methods for genome-wide scans and genetic association studies.

Framework:

  • GAW16 utilized three distinct datasets: rheumatoid arthritis case-control data, Framingham Heart Study (FHS) cardiovascular risk factor data, and simulated FHS phenotypes.
  • These datasets incorporated real pedigree structures and genotypes for comprehensive analysis.

Implementation:

  • 168 contributions were presented and organized into 17 discussion groups, fostering collaborative problem-solving.
  • Participants from 12 countries engaged in discussions on data analysis methodologies and interpretation.

Implications:

  • The workshop proceedings, including summaries from each discussion group, offer valuable insights into current SNP data analysis techniques.
  • Findings contribute to advancing the understanding of genetic factors in rheumatoid arthritis and cardiovascular disease.