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Related Concept Videos

DNA Microarrays02:34

DNA Microarrays

Microarrays are high-throughput and relatively inexpensive assays that can be automated to analyze large quantities of data at a time. They are used in genome-wide studies to compare gene or protein expression under two varied conditions, such as healthy and diseased states. Microarrays consist of glass or silica slides on which probe molecules are covalently attached through surface functionalization. Most commonly, the slides are prepared through the chemisorption of silanes to silica...
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Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...

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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Genotype calling for the Affymetrix platform.

Arne Schillert1, Andreas Ziegler

  • 1Institut für Medizinische Biometrie und Statistik, Universitätsklinikum Schleswig-Holstein, Universität zu Lubeck, Lübeck, Germany. Arne.Schillert@imbs.uni-luebeck.de

Methods in Molecular Biology (Clifton, N.J.)
|February 7, 2012
PubMed
Summary
This summary is machine-generated.

Accurate genotype calling is essential for genome-wide association studies. This study details the Birdseed and CRLMM algorithms for Affymetrix SNP Array 6.0, providing practical guidance for high-quality genetic epidemiology data analysis.

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Area of Science:

  • Genetic Epidemiology
  • Bioinformatics
  • Statistical Genetics

Background:

  • High-throughput genotyping data analysis is standard in genetic epidemiology.
  • High-quality data is critical for the success of genome-wide association (GWA) studies.
  • Accurate genotype generation from signal intensities is the initial step in statistical analysis.

Purpose of the Study:

  • To describe and compare the Birdseed and CRLMM genotype calling algorithms for the Affymetrix Genome-Wide Human SNP Array 6.0.
  • To provide detailed usage instructions and practical guidance for implementing these algorithms.
  • To facilitate the accurate analysis of high-throughput genotyping data in GWA studies.

Main Methods:

  • Description of the statistical methodologies underlying the Birdseed and CRLMM algorithms.
  • Detailed explanation of the practical application and execution of both genotype calling algorithms.
  • Provision of software links and sample code for algorithm installation and use.

Main Results:

  • The study provides a comprehensive overview of two commonly used genotype calling algorithms.
  • Practical resources including software links and sample code are made available.
  • A method for processing the output files from these algorithms is suggested.

Conclusions:

  • The Birdseed and CRLMM algorithms are key tools for genotype calling in GWA studies.
  • This work offers practical support for researchers to achieve high-quality genotype data.
  • Effective implementation of these methods enhances the reliability of genetic epidemiology findings.