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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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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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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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Related Experiment Videos

NCBI's Database of Genotypes and Phenotypes: dbGaP.

Kimberly A Tryka1, Luning Hao, Anne Sturcke

  • 1Information Engineering Branch, National Center for Biotechnology Information, Bethesda, MD 20894, USA.

Nucleic Acids Research
|December 4, 2013
PubMed
Summary
This summary is machine-generated.

The National Institutes of Health

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Area of Science:

  • Genomics
  • Bioinformatics
  • Human Genetics

Background:

  • The Database of Genotypes and Phenotypes (dbGaP) archives and distributes data from studies on genotype-phenotype interactions.
  • It is a National Institutes of Health-sponsored resource crucial for genetic research.

Purpose of the Study:

  • To describe the structure and content of the dbGaP database.
  • To outline data accessibility policies for researchers globally.

Main Methods:

  • Data archiving and curation of genotype and phenotype information.
  • Hierarchical organization of data including molecular assays, phenotypes, and documents.
  • Implementation of controlled access for individual-level data.

Main Results:

  • dbGaP contains diverse molecular assay data (SNP, Expression Array, Sequence, Epigenomic marks).
  • Metadata, summary data, and documents are publicly accessible.
  • Individual-level data requires controlled access application.

Conclusions:

  • dbGaP serves as a vital, centralized repository for genotype-phenotype interaction studies.
  • The database facilitates global scientific access to genetic and phenotypic data under controlled conditions.