Automated quality control for genome wide association studies
نویسندگان
چکیده
This paper provides details on the necessary steps to assess and control data in genome wide association studies (GWAS) using genotype information on a large number of genetic markers for large number of individuals. Due to varied study designs and genotyping platforms between multiple sites/projects as well as potential genotyping errors, it is important to ensure high quality data. Scripts and directions are provided to facilitate others in this process.
منابع مشابه
QCGWAS: A flexible R package for automated quality control of genome-wide association results
QCGWAS is an R package that automates the quality control of genome-wide association result files. Its main purpose is to facilitate the quality control of a large number of such files before meta-analysis. Alternatively, it can be used by individual cohorts to check their own result files. QCGWAS is flexible and has a wide range of options, allowing rapid generation of high-quality input files...
متن کاملGenome Wide Association Studies, Next Generation Sequencing and Their Application in Animal Breeding and Genetics: A Review
Recently genetic studies have been revolutionized by next generation sequencing (NGS) technology, and it is expected that the use of this technology will largely eliminate defects in the methods of association studies. The NGS technology is becoming the premier tool in genetics. However, at the moment the use of this method is limited especially in the livestock due to high cost and computation...
متن کاملGenome-wide Association Study to Identify Genes and Biological Pathways Associated with Type Traits in Cattle using Pathway Analysis
Extended Abstract Introduction and Objective: Type traits describing the skeletal characteristics of an animal are moderately to strongly genetically correlate with other economically important traits in cattle including fertility, longevity and carcass traits. The present study aimed to conduct a genome wide association studies (GWAS) based on gene-set enrichment analysis for identifying the ...
متن کاملOn Quality Control Measures in Genome-Wide Association Studies: A Test to Assess the Genotyping Quality of Individual Probands in Family-Based Association Studies and an Application to the HapMap Data
Allele transmissions in pedigrees provide a natural way of evaluating the genotyping quality of a particular proband in a family-based, genome-wide association study. We propose a transmission test that is based on this feature and that can be used for quality control filtering of genome-wide genotype data for individual probands. The test has one degree of freedom and assesses the average geno...
متن کاملA robust clustering algorithm for identifying problematic samples in genome-wide association studies
SUMMARY High-throughput genotyping arrays provide an efficient way to survey single nucleotide polymorphisms (SNPs) across the genome in large numbers of individuals. Downstream analysis of the data, for example in genome-wide association studies (GWAS), often involves statistical models of genotype frequencies across individuals. The complexities of the sample collection process and the potent...
متن کامل