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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 potential for errors in the experimental assay can lead to biases and artefacts in an individual's inferred genotypes. Rather than attempting to model these complications, it has become a standard practice to remove individuals whose genome-wide data differ from the sample at large. Here we describe a simple, but robust, statistical algorithm to identify samples with atypical summaries of genome-wide variation. Its use as a semi-automated quality control tool is demonstrated using several summary statistics, selected to identify different potential problems, and it is applied to two different genotyping platforms and sample collections. AVAILABILITY: The algorithm is written in R and is freely available at www.well.ox.ac.uk/chris-spencer CONTACT: chris.spencer@well.ox.ac.uk SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

Original publication

DOI

10.1093/bioinformatics/btr599

Type

Journal article

Journal

Bioinformatics

Publication Date

01/01/2012

Volume

28

Pages

134 - 135

Keywords

Algorithms, Cluster Analysis, Cohort Studies, Female, Genome-Wide Association Study, Humans, Male, Oligonucleotide Array Sequence Analysis, Polymorphism, Single Nucleotide