Background#R##N#Single Nucleotide Polymorphisms (SNPs) are widely used molecular markers, and their use has increased massively since the inception of Next Generation Sequencing (NGS) technologies, which allow detection of large numbers of SNPs at low cost. However, both NGS data and their analysis are error-prone, which can lead to the generation of false positive (FP) SNPs. We explored the relationship between FP SNPs and seven factors involved in mapping-based variant calling — quality of the reference sequence, read length, choice of mapper and variant caller, mapping stringency and filtering of SNPs by read mapping quality and read depth. This resulted in 576 possible factor level combinations. We used error- and variant-free simulated reads to ensure that every SNP found was indeed a false positive.
['António Castro Ribeiro', 'Agnieszka A. Golicz', 'C. A. Hackett', 'Iain Milne', 'Gordon Stephen', 'David Marshall', 'Andrew J. Flavell', 'Micha Bayer']
An investigation of causes of false positive single nucleotide polymorphisms using simulated reads from a small eukaryote genome