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Related Concept Videos

Genetic Drift03:33

Genetic Drift

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Natural selection—probably the most well-known evolutionary mechanism—increases the prevalence of traits that enhance survival and reproduction. However, evolution does not merely propagate favorable traits, nor does it always benefit populations.
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Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
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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.
GWAS does not require the identification of the target gene involved in...
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Hardy-Weinberg Principle01:49

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Diploid organisms have two alleles of each gene, one from each parent, in their somatic cells. Therefore, each individual contributes two alleles to the gene pool of the population. The gene pool of a population is the sum of every allele of all genes within that population and has some degree of variation. Genetic variation is typically expressed as a relative frequency, which is the percentage of the total population that has a given allele, genotype or phenotype.
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The genomes of eukaryotes are punctuated by long stretches of sequence which do not code for proteins or RNAs. Although some of these regions do contain crucial regulatory sequences, the vast majority of this DNA serves no known function. Typically, these regions of the genome are the ones in which the fastest change, in evolutionary terms, is observed, because there is typically little to no selection pressure acting on these regions to preserve their sequences.
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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

Haplotype inference.

Olivier Delaneau1, Jean-François Zagury

  • 1Chaire de Bioinformatique, Conservatoire National des Arts et Métiers, Paris, France.

Methods in Molecular Biology (Clifton, N.J.)
|June 6, 2012
PubMed
Summary
This summary is machine-generated.

Haplotype inference recovers crucial genetic information lost during sequencing. This overview details methods for inferring haplotypes from genetic data.

Related Experiment Videos

Area of Science:

  • Genetics
  • Bioinformatics
  • Computational Biology

Background:

  • Haplotypes, the combination of alleles on a chromosome, are vital for population genetics and association studies.
  • Standard sequencing methods often lose haplotype information, necessitating inference techniques.

Purpose of the Study:

  • To provide an overview of methods for inferring haplotypes from genetic data.
  • To discuss practical considerations for applying these inference methods to real-world datasets.

Main Methods:

  • Review of computational algorithms designed for haplotype inference.
  • Discussion of statistical approaches for reconstructing haplotypes.

Main Results:

  • Haplotype inference is essential for leveraging allele combination data in genetic research.
  • Various computational and statistical methods exist to address this challenge.

Conclusions:

  • Effective haplotype inference is key to unlocking the full potential of genetic data in studies.
  • Practical application requires careful consideration of data characteristics and chosen methods.