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

Jun 1, 2019·
Mathias Lorieux
Anestis Gkanogiannis
Anestis Gkanogiannis
,
Christopher Fragoso
,
Jean-François Rami
· 0 min read
Abstract
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 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.
Type
Publication
In bioRxiv 658237
publication
Anestis Gkanogiannis
Authors
Senior AI/ML and genomics practitioner

Senior AI/ML and genomics practitioner with ~15 years building open-source, production-grade tools for large-scale biological data. Maintainer of multiple Bioconductor packages (fastreeR, metabinR, jvecfor), and author of agentic, LLM-driven tooling that runs reproducible bioinformatics workflows from natural-language requests.

Broad multi-omics background spanning genome assembly and annotation, population genomics, large-scale NGS and functional-genomics analysis, and metagenomics, backed by reproducible HPC software and end-to-end program leadership. Currently focused on bringing modern AI — embeddings, deep learning, and LLM-based agents — to making complex omics datasets faster and easier to interrogate.