Variant calling in non-model organisms with snpArcher

Population genomic studies in non-model organisms increasingly depend on whole-genome resequencing, yet translating raw reads into reliable variant callsets remains a practical challenge due to the complexity of multi-step bioinformatics pipelines and the absence of species-specific best practices. Here we present a step-by-step protocol for snpArcher, a Snakemake-based workflow that takes raw sequencing reads and a reference genome as input and produces a filtered, joint-called VCF suitable for downstream population genomic analysis. We guide users through six phases: installation and environment setup, sample sheet creation, run configuration, execution on local or high-performance computing systems, quality control review using an interactive HTML dashboard, and downstream analysis, focusing on postprocessing and filtering. The QC dashboard aggregates individual-level metrics including principal component analysis, relatedness estimation, depth-missingness diagnostics, and admixture analysis to help identify batch effects, contamination, cryptic relatedness, and outlier samples before downstream analysis. We demonstrate the impact of sequential filtering steps on the site frequency spectrum and demographic inference using a dataset of 137 burrowing owl (Athene cunicularia) genomes, showing how removal of low-coverage individuals, sex-linked scaffolds, and regions of excess heterozygosity eliminates artifacts that would otherwise bias inference of population size history. This protocol is intended as a practical companion to the original snpArcher publication, enabling researchers working with non-model organisms to produce and evaluate analysis-ready variant callsets in a reproducible manner.

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Publication Details

Journal
Molecular Biology and Evolution
Published
2026-08-26
DOI
https://doi.org/10.1093/molbev/msag220
Primary Topic
Genomics and Phylogenetic Studies
Type
article
Field-Weighted Citation Impact
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article

Variant calling in non-model organisms with snpArcher

Guillaume Achaz, Timothy B. Sackton, Cade Mirchandani, Abdelmajid Omarjee et al.
Molecular Biology and Evolution
Genomics and Phylogenetic Studies
article

Variant calling in non-model organisms with snpArcher

Guillaume Achaz, Timothy B. Sackton, Cade Mirchandani, Abdelmajid Omarjee, Erik Enbody, Gregg Thomas
article en

Abstract

Population genomic studies in non-model organisms increasingly depend on whole-genome resequencing, yet translating raw reads into reliable variant callsets remains a practical challenge due to the complexity of multi-step bioinformatics pipelines and the absence of species-specific best practices. Here we present a step-by-step protocol for snpArcher, a Snakemake-based workflow that takes raw sequencing reads and a reference genome as input and produces a filtered, joint-called VCF suitable for downstream population genomic analysis. We guide users through six phases: installation and environment setup, sample sheet creation, run configuration, execution on local or high-performance computing systems, quality control review using an interactive HTML dashboard, and downstream analysis, focusing on postprocessing and filtering. The QC dashboard aggregates individual-level metrics including principal component analysis, relatedness estimation, depth-missingness diagnostics, and admixture analysis to help identify batch effects, contamination, cryptic relatedness, and outlier samples before downstream analysis. We demonstrate the impact of sequential filtering steps on the site frequency spectrum and demographic inference using a dataset of 137 burrowing owl (Athene cunicularia) genomes, showing how removal of low-coverage individuals, sex-linked scaffolds, and regions of excess heterozygosity eliminates artifacts that would otherwise bias inference of population size history. This protocol is intended as a practical companion to the original snpArcher publication, enabling researchers working with non-model organisms to produce and evaluate analysis-ready variant callsets in a reproducible manner.

Molecular Biology and Evolution
Centre National de la Recherche Scientifique (FR), Harvard University (US), Inserm (FR), University of California, Santa Cruz (US), Université Paris Cité (FR), Cornell University (US), Sorbonne Paris Cité (FR), Institut de Systématique, Évolution, Biodiversité (FR), Centre Interdisciplinaire de Recherche en Biologie (FR)
Openalex Percentile: Top 17%
Genomics and Phylogenetic Studies
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