Quality control, imputation and analysis of genome-wide genotyping data from the Illumina HumanCoreExome microarray.

Jonathan R I Coleman, Jack Euesden, Hamel Patel, Amos A Folarin, Stephen Newhouse, Gerome Breen
Author Information

Abstract

The decreasing cost of performing genome-wide association studies has made genomics widely accessible. However, there is a paucity of guidance for best practice in conducting such analyses. For the results of a study to be valid and replicable, multiple biases must be addressed in the course of data preparation and analysis. In addition, standardizing methods across small, independent studies would increase comparability and the potential for effective meta-analysis. This article provides a discussion of important aspects of quality control, imputation and analysis of genome-wide data from a low-coverage microarray, as well as a straight-forward guide to performing a genome-wide association study. A detailed protocol is provided online, with example scripts available at https://github.com/JoniColeman/gwas_scripts.

Keywords

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MeSH Term

Algorithms
Cognition Disorders
Cognitive Behavioral Therapy
Computational Biology
Exome
Genome, Human
Genome-Wide Association Study
Genotype
Humans
Phenotype
Polymorphism, Single Nucleotide
Quality Control
Software

Word Cloud

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