Article
SNP allele calling of Illumina Infinium Omni5-4 data using the butterfly method.
Scientific reports - 12 Oct 2022
Andersen Mikkel Meyer, Christiansen Steffan Noe, Andersen Jeppe Dyrberg, Eriksen Poul Svante, Morling Niels
Abstract excerpt
We introduce a within-sample SNP calling method, called the "butterfly method", that improves the quality of SNP calling with the Illumina Infinium Omni5-4 SNP Kit. This was done by improving how no-calls are determined from allele signal intensities. High confidence of SNP allele calling is extremely important in forensic genetics and clinical diagnostics. This paper is accompanied by two open-source R packages,...
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