Genomic approaches to the study of population demography rely on
accurate SNP calling and by-proxy the site frequency spectrum (SFS). Two
main questions for the design of such studies remain poorly
investigated: do reduced genomic sequencing summary statistics reflect
that of whole genome, and how do sequencing strategies and derived
summary statistics impact demographic inferences? To address those
questions, we applied the ddRAD sequencing approach to 254 individuals
and whole genome resequencing approach to 35 mountain goat (Oreamnos
americanus) individuals across the species range with a known
demographic history. We identified SNPs with 5 different variant callers
and used ANGSD to estimate the genotype likelihoods (GLs). We tested
combinations of SNP filtering by linkage disequilibrium (LD), minor
allele frequency (MAF) and the genomic region. We compared the resulting
suite of summary statistics reflective of the SFS and quantified the
relationship to demographic inferences by estimating the contemporary
effective population size (Ne), isolation-by-distance and population
structure, FST, and explicit modelling of the demographic history with
δaδi. Filtering had a larger effect than sequencing strategy, with the
former strongly influencing summary statistics. Estimates of
contemporary Ne and isolation-by-distance patterns were largely robust
to the choice of sequencing, pipeline, and filtering. Despite the high
variance in summary statistics, whole genome and reduced representation
approaches were overall similar in supporting a glacial induced
vicariance and low Ne in mountain goats. We discuss why whole genome
resequencing data is preferable, and reiterate support the use of GLs,
in part because it limits user-determined filters.
The North American mountain goat (Oreamnos americanus) is an iconic alpine species that faces stressors from climate change, industrial development, and recreational activities. This species’ phylogenetic position within the Caprinae lineage has not been resolved and their phylogeographic history is dynamic and controversial. Genomic data could be used to address these questions and provide valuable insights to conservation and management initiatives. We sequenced short-read genomic libraries constructed from a DNA sample of a 2.5-year-old female mountain goat at 80X coverage. We improved the short-read assembly by generating Chicago library data and scaffolding using the HiRise approach. The final assembly was 2,506 Mbp in length with an N50 of 66.6 Mbp, which is within the length range and in the upper quartile for N50 published ungulate genome assemblies. Comparative analysis identified 84 gene families unique to the mountain goat. The species demographic history in terms of effective population size generally mirrored climatic trends over the past one hundred thousand years and showed a sharp decline during the last glacial maximum. This genome assembly will provide a reference basis for future population and comparative genomic analyses.
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