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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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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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Published on: June 21, 2018

Imputation of missing genotypes from sparse to high density using long-range phasing.

Hans D Daetwyler1, George R Wiggans, Ben J Hayes

  • 1Biosciences Research Division, Department of Primary Industries, Bundoora 3083, Australia. hans.daetwyler@dpi.vic.gov.au

Genetics
|June 28, 2011
PubMed
Summary
This summary is machine-generated.

ChromoPhase is a new algorithm that accurately phases chromosomes and imputes missing genotypes using related individuals. This method shows promise for improving genomic predictions even with imperfectly imputed data.

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Area of Science:

  • Genetics
  • Bioinformatics
  • Genomic Data Analysis

Background:

  • Related individuals share long chromosome segments inherited from common ancestors.
  • Accurate phasing and imputation of genotypes are crucial for genomic studies.
  • Existing methods may have limitations in handling large datasets and complex pedigrees.

Purpose of the Study:

  • To introduce ChromoPhase, a novel algorithm for phasing large chromosomal segments.
  • To evaluate ChromoPhase's performance in imputing missing genotypes using related individuals.
  • To assess the impact of genotype imputation on genomic prediction accuracy.

Main Methods:

  • Developed ChromoPhase, an algorithm utilizing related individuals (surrogate parents/offspring) and genotypic similarity to phase chromosomes.
  • Employed a pedigree-based approach to identify genomic surrogates and shared segments.
  • Tested ChromoPhase on simulated populations and a real Holstein cattle dataset for phasing and imputation.

Main Results:

  • ChromoPhase achieved 99.9% accuracy in phasing loci in simulated data.
  • Successfully imputed over 87% of missing genotypes in simulated data and 92% in real cattle data.
  • Genomic prediction accuracy showed only a modest reduction despite imperfectly imputed genotypes.

Conclusions:

  • ChromoPhase is a feasible and accurate method for imputing missing genotypes and potentially full genome sequences.
  • The algorithm leverages relatedness to improve genomic data quality.
  • Imputation using ChromoPhase has minimal impact on the accuracy of genomic evaluations.