PRESTO: Rapid calculation of order statistic distributions and multiple-testing adjusted P-values via permutation for one and two-stage genetic association studiesReportar como inadecuado




PRESTO: Rapid calculation of order statistic distributions and multiple-testing adjusted P-values via permutation for one and two-stage genetic association studies - Descarga este documento en PDF. Documentación en PDF para descargar gratis. Disponible también para leer online.

BMC Bioinformatics

, 9:309

First Online: 13 July 2008Received: 06 February 2008Accepted: 13 July 2008

Abstract

BackgroundLarge-scale genetic association studies can test hundreds of thousands of genetic markers for association with a trait. Since the genetic markers may be correlated, a Bonferroni correction is typically too stringent a correction for multiple testing. Permutation testing is a standard statistical technique for determining statistical significance when performing multiple correlated tests for genetic association. However, permutation testing for large-scale genetic association studies is computationally demanding and calls for optimized algorithms and software. PRESTO is a new software package for genetic association studies that performs fast computation of multiple-testing adjusted P-values via permutation of the trait.

ResultsPRESTO is an order of magnitude faster than other existing permutation testing software, and can analyze a large genome-wide association study 500 K markers, 5 K individuals, 1 K permutations in approximately one hour of computing time. PRESTO has several unique features that are useful in a wide range of studies: it reports empirical null distributions for the top-ranked statistics i.e. order statistics, it performs user-specified combinations of allelic and genotypic tests, it performs stratified analysis when sampled individuals are from multiple populations and each individual-s population of origin is specified, and it determines significance levels for one and two-stage genotyping designs. PRESTO is designed for case-control studies, but can also be applied to trio data parents and affected offspring if transmitted parental alleles are coded as case alleles and untransmitted parental alleles are coded as control alleles.

ConclusionPRESTO is a platform-independent software package that performs fast and flexible permutation testing for genetic association studies. The PRESTO executable file, Java source code, example data, and documentation are freely available at http:-www.stat.auckland.ac.nz-~browning-presto-presto.html.

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Autor: Brian L Browning

Fuente: https://link.springer.com/



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