PPC: an algorithm for accurate estimation of SNP allele frequencies in small equimolar pools of DNA using data from high density microarrays.

Abstract:

:Robust estimation of allele frequencies in pools of DNA has the potential to reduce genotyping costs and/or increase the number of individuals contributing to a study where hundreds of thousands of genetic markers need to be genotyped in very large populations sample sets, such as genome wide association studies. In order to make accurate allele frequency estimations from pooled samples a correction for unequal allele representation must be applied. We have developed the polynomial based probe specific correction (PPC) which is a novel correction algorithm for accurate estimation of allele frequencies in data from high-density microarrays. This algorithm was validated through comparison of allele frequencies from a set of 10 individually genotyped DNA's and frequencies estimated from pools of these 10 DNAs using GeneChip 10K Mapping Xba 131 arrays. Our results demonstrate that when using the PPC to correct for allelic biases the accuracy of the allele frequency estimates increases dramatically.

journal_name

Nucleic Acids Res

journal_title

Nucleic acids research

authors

Brohede J,Dunne R,McKay JD,Hannan GN

doi

10.1093/nar/gni142

keywords:

subject

Has Abstract

pub_date

2005-09-30 00:00:00

pages

e142

issue

17

eissn

0305-1048

issn

1362-4962

pii

33/17/e142

journal_volume

33

pub_type

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