Smarter clustering methods for SNP genotype calling

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Smarter clustering methods for SNP genotype calling

MOTIVATION Most genotyping technologies for single nucleotide polymorphism (SNP) markers use standard clustering methods to 'call' the SNP genotypes. These methods are not always optimal in distinguishing the genotype clusters of a SNP because they do not take advantage of specific features of the genotype calling problem. In particular, when family data are available, pedigree information is i...

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Highly accurate and reliable genotype calling is an essential component of any highthroughput SNP genotyping technology. BRLMM, the method of choice for the Mapping 500K product, is effective, but requires the presence of mismatched probes (MM) probes on the array to create “seed” genotypes. We present here a method that only uses perfect-match probes, BRLMM-P. The primary difference between BR...

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MOTIVATION A classification algorithm, based on a multi-chip, multi-SNP approach is proposed for Affymetrix SNP arrays. Current procedures for calling genotypes on SNP arrays process all the features associated with one chip and one SNP at a time. Using a large training sample where the genotype labels are known, we develop a supervised learning algorithm to obtain more accurate classification ...

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We present a statistical framework for estimation and application of sample allele frequency spectra from New-Generation Sequencing (NGS) data. In this method, we first estimate the allele frequency spectrum using maximum likelihood. In contrast to previous methods, the likelihood function is calculated using a dynamic programming algorithm and numerically optimized using analytical derivatives...

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MOTIVATION The technology to genotype single nucleotide polymorphisms (SNPs) at extremely high densities provides for hypothesis-free genome-wide scans for common polymorphisms associated with complex disease. However, we find that some errors introduced by commonly employed genotyping algorithms may lead to inflation of false associations between markers and phenotype. RESULTS We have develo...

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ژورنال

عنوان ژورنال: Bioinformatics

سال: 2008

ISSN: 1460-2059,1367-4803

DOI: 10.1093/bioinformatics/btn509