Title: A Bayesian approach for genotyping single nucleotide polymorphisms (SNPs)

Authors: Ali Sheikhi; David Ramsey

Addresses: Department of Mathematics and Statistics, University of Limerick, Limerick, Ireland ' Faculty of Computer Science and Management, Wroclaw University of Science and Technology, Wroclaw, Poland

Abstract: Genotyping is the process of determining the genetic make-up (genotype) of an individual by examining the individual's DNA sequence. It reveals the alleles an individual has inherited from their parents. Single Nucleotide Polymorphism (SNP) genotyping first involves identifying SNPs that are a common source of genetic variation. Genotyping of SNPs has become extremely important to researchers working to understand and treat disease. Most SNPs are biallelic, thus the genotype is defined by the three possible combinations of the two alleles. In this study, we present a Bayesian approach for genotyping the detected SNPs. We also present the results of genotyping the real genome sequence data.

Keywords: Bayesian; genotype; SNP; single nucleotide polymorphism.

DOI: 10.1504/IJDMB.2018.094890

International Journal of Data Mining and Bioinformatics, 2018 Vol.20 No.4, pp.341 - 361

Received: 26 Jul 2017
Accepted: 22 Jul 2018

Published online: 21 Sep 2018 *

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