GenErode: a bioinformatics pipeline to investigate genome erosion in endangered and extinct species.

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Kutschera VE, Kierczak M, van der Valk T, von Seth J, Dussex N, Lord E, Dehasque M, Stanton DWG, Khoonsari PE, Nystedt B, Dalén L, Díez-Del-Molino D

BMC Bioinformatics 23 (1) 228 [2022-06-13; online 2022-06-13]

Many wild species have suffered drastic population size declines over the past centuries, which have led to 'genomic erosion' processes characterized by reduced genetic diversity, increased inbreeding, and accumulation of harmful mutations. Yet, genomic erosion estimates of modern-day populations often lack concordance with dwindling population sizes and conservation status of threatened species. One way to directly quantify the genomic consequences of population declines is to compare genome-wide data from pre-decline museum samples and modern samples. However, doing so requires computational data processing and analysis tools specifically adapted to comparative analyses of degraded, ancient or historical, DNA data with modern DNA data as well as personnel trained to perform such analyses. Here, we present a highly flexible, scalable, and modular pipeline to compare patterns of genomic erosion using samples from disparate time periods. The GenErode pipeline uses state-of-the-art bioinformatics tools to simultaneously process whole-genome re-sequencing data from ancient/historical and modern samples, and to produce comparable estimates of several genomic erosion indices. No programming knowledge is required to run the pipeline and all bioinformatic steps are well-documented, making the pipeline accessible to users with different backgrounds. GenErode is written in Snakemake and Python3 and uses Conda and Singularity containers to achieve reproducibility on high-performance compute clusters. The source code is freely available on GitHub ( https://github.com/NBISweden/GenErode ). GenErode is a user-friendly and reproducible pipeline that enables the standardization of genomic erosion indices from temporally sampled whole genome re-sequencing data.

Bioinformatics (NBIS) [Technology development]

Bioinformatics Long-term Support WABI [Technology development]

Bioinformatics Support for Computational Resources [Service]

Bioinformatics Support, Infrastructure and Training [Technology development]

PubMed 35698034

DOI 10.1186/s12859-022-04757-0

Crossref 10.1186/s12859-022-04757-0

pmc: PMC9195343
pii: 10.1186/s12859-022-04757-0