Origin Matters: Using a Local Reference Genome Improves Measures in Population Genomics

Genome-level sequencing enables us to ask fundamental questions about the genetic basis of adaptation, population structure, and epigenetic mechanisms, but usually requires a suitable reference genome for making sense of the sequence data. Reference genomes are becoming increasingly available. In some model systems, multiple reference genomes are available, giving researchers the challenging task of determining which reference genome best suits their data. Here we compare the use of two different reference genomes for the three-spined stickleback (Gasterosteus aculeatus), one novel genome derived from a European gynogenetic individual and the published reference genome of a North American individual. Specifically, we investigate the impact of using a local reference versus one generated from a differentiated population on several common population genomics analyses. Through mapping genome resequencing data of 60 sticklebacks from across Europe and North America, we demonstrate that genetic distance among samples and the reference impacts downstream analyses. Using a local reference genome increased mapping efficiency and genotyping accuracy, effectively retaining more and better data. Despite comparable distributions of the metrics generated across the genome using SNP data (i.e., p, Tajima’s D, and FST), window-based statistics using different references resulted in different outlier genes and enriched gene functions. A marker-based analysis of DNA methylation distributions had a comparably high overlap in outlier genes and functions, yet with distinct differences depending on the reference genome. Overall, our results highlight how using a local reference genome decreases reference bias to increase confidence in downstream analyses of the data. Such results have significant implications in all reference-genome-based population genomic analyses.

Identifier
Source https://data.blue-cloud.org/search-details?step=~012E4282021C8E6EA82CBDB3050521A4119EB5B56A9
Metadata Access https://data.blue-cloud.org/api/collections/E4282021C8E6EA82CBDB3050521A4119EB5B56A9
Provenance
Instrument Illumina HiSeq 2500; PacBio RS; ILLUMINA; PACBIO_SMRT
Publisher Blue-Cloud Data Discovery & Access service; ELIXIR-ENA
Contributor Queen Mary University of London
Publication Year 2024
OpenAccess true
Contact blue-cloud-support(at)maris.nl
Representation
Discipline Marine Science
Temporal Point 2022-11-07T00:00:00Z