NOISYmputer: genotype imputation in bi-parental populations for noisy low-coverage next-generation sequencing data [article]

Mathias Lorieux, Anestis Gkanogiannis, Christopher Fragoso, Jean-Francois Rami
2019 bioRxiv   pre-print
Motivation: Low-coverage next-generation sequencing (LC-NGS) methods can be used to genotype bi-parental populations. This approach allows the creation of highly saturated genetic maps at reasonable cost, precisely localized recombination breakpoints, and minimize mapping intervals for quantitative-trait locus analysis. The main issues with these genotyping methods are (1) poor performance at heterozygous loci, (2) a high percentage of missing data, (3) local errors due to erroneous mapping of
more » ... roneous mapping of sequencing reads and reference genome mistakes, and (4) global, technical errors inherent to NGS itself. Recent methods like Tassel-FSFHap or LB-Impute are excellent at addressing issues 1 and 2, but nonetheless perform poorly when issues 3 and 4 are persistent in a dataset (i.e. "noisy" data). Here, we present an algorithm for imputation of LC-NGS data that eliminates the need of complex pre-filtering of noisy data, accurately types heterozygous chromosomic regions, corrects erroneous data, and imputes missing data. We compare its performance with Tassel-FSFHap, LB-Impute, and Genotype-Corrector using simulated data and three real datasets: a rice single seed descent (SSD) population genotyped by genotyping by sequencing (GBS) by whole genome sequencing (WGS), and a sorghum SSD population genotyped by GBS. Availability: NOISYmputer, a Microsoft Excel-Visual Basic for Applications program that implements the algorithm, is available at It runs in Apple macOS and Microsoft Windows operating systems.
doi:10.1101/658237 fatcat:zi2t6p7j3nddzpwpvpzefpbk34