期刊
BIOINFORMATICS
卷 24, 期 19, 页码 2209-2214出版社
OXFORD UNIV PRESS
DOI: 10.1093/bioinformatics/btn386
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资金
- UK Engineering and Physical Sciences Research Council Life Sciences Interface Doctoral Training Studentships
- MRC [G0500115] Funding Source: UKRI
- Medical Research Council [G0500115] Funding Source: researchfish
Current genotyping algorithms typically call genotypes by clustering allele-specific intensity data on a single nucleotide polymorphism (SNP) by SNP basis. This approach assumes the availability of a large number of control samples that have been sampled on the same array and platform. We have developed a SNP genotyping algorithm for the Illumina Infinium SNP genotyping assay that is entirely within-sample and does not require the need for a population of control samples nor parameters derived from such a population. Our algorithm exhibits high concordance with current methods and 99 call accuracy on HapMap samples. The ability to call genotypes using only within-sample information makes the method computationally light and practical for studies involving small sample sizes and provides a valuable independent quality control metric for other population-based approaches.
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