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Detectability of runs of homozygosity is influenced by analysis parameters as well as population-specific demographic history

View ORCID ProfileAvril M. Harder, Kenneth B. Kirksey, View ORCID ProfileSamarth Mathur, View ORCID ProfileJanna R. Willoughby
doi: https://doi.org/10.1101/2022.09.29.510155
Avril M. Harder
1College of Forestry, Wildlife and Environment, Auburn University, Auburn, Alabama, USA
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Kenneth B. Kirksey
2Walker College of Business, Appalachian State University, Boone, North Carolina, USA
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Samarth Mathur
3Department of Evolution, Ecology, and Organismal Biology, The Ohio State University, Columbus, Ohio, USA
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Janna R. Willoughby
1College of Forestry, Wildlife and Environment, Auburn University, Auburn, Alabama, USA
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Abstract

Wild populations are increasingly threatened by human-mediated climate change and land use changes. As populations decline, the probability of inbreeding increases, along with the potential for negative effects on individual fitness. Detecting and characterizing runs of homozygosity (ROHs) is a popular strategy for assessing the extent of individual inbreeding present in a population and can also shed light on the genetic mechanisms contributing to inbreeding depression. However, selecting an appropriate program and parameter values for such analyses is often difficult for species of conservation concern, for which little is often known about population demographic histories or few high-quality genomic resources are available. Herein, we analyze simulated and empirical data sets to demonstrate the downstream effects of program selection on ROH inference. We also apply a sensitivity analysis to evaluate the effects of various parameter values on ROH-calling results and demonstrate its utility for parameter value selection. We show that ROH inferences can be biased when sequencing depth and the distribution of ROH length is not interpreted in light of program-specific tendencies. This is particularly important for the management of endangered species, as some program and parameter combinations consistently underestimate inbreeding signals in the genome, substantially undermining conservation initiatives. Based on our conclusions, we suggest using a combination of ROH detection tools and ROH length-specific inferences to generate robust population inferences regarding inbreeding history. We outline these recommendations for ROH estimation at multiple levels of sequencing effort typical of conservation genomics studies.

Competing Interest Statement

The authors have declared no competing interest.

Copyright 
The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-NC-ND 4.0 International license.
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Posted September 30, 2022.
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Detectability of runs of homozygosity is influenced by analysis parameters as well as population-specific demographic history
Avril M. Harder, Kenneth B. Kirksey, Samarth Mathur, Janna R. Willoughby
bioRxiv 2022.09.29.510155; doi: https://doi.org/10.1101/2022.09.29.510155
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Detectability of runs of homozygosity is influenced by analysis parameters as well as population-specific demographic history
Avril M. Harder, Kenneth B. Kirksey, Samarth Mathur, Janna R. Willoughby
bioRxiv 2022.09.29.510155; doi: https://doi.org/10.1101/2022.09.29.510155

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