期刊
FRONTIERS IN GENETICS
卷 9, 期 -, 页码 -出版社
FRONTIERS MEDIA SA
DOI: 10.3389/fgene.2018.00480
关键词
autopolyploidy; dosage distribution; Hardy-Weinberg equilibrium; high-throughput sequencing; site frequency spectrum; heterozygosity; neutrality tests; allelic dosage
资金
- MEC, Spain [AGL2016-78709-R]
- Spanish Ministry of Economy and Competitivity [SEV-2015-0533]
- CERCA Programme/Generalitat de Catalunya
- Biotechnology and Biological Sciences Research Council of the United Kingdom [BB/E/I/00007035, BB/E/I/00007036, BBS/E/I/00007039]
- BBSRC [BBS/E/I/00007039, BBS/E/I/00007036, BBS/E/I/00007035] Funding Source: UKRI
The Site Frequency Spectrum (SFS) and the heterozygosity of allelic variants are among the most important summary statistics for population genetic analysis of diploid organisms. We discuss the generalization of these statistics to populations of autopolyploid organisms in terms of the joint Site Frequency/Dosage Spectrum and its expected value for autopolyploid populations that follow the standard neutral model. Based on these results, we present estimators of nucleotide variability from High-Throughput Sequencing (HTS) data of autopolyploids and discuss potential issues related to sequencing errors and variant calling. We use these estimators to generalize Tajima's D and other SFS-based neutrality tests to HTS data from autopolyploid organisms. Finally, we discuss how these approaches fail when the number of individuals is small. In fact, in autopolyploids there are many possible deviations from the Hardy-Weinberg equilibrium, each reflected in a different shape of the individual dosage distribution. The SFS from small samples is often dominated by the shape of these deviations of the dosage distribution from its Hardy-Weinberg expectations.
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