Detecting inversions with PCA in the presence of population structure.

Detecting inversions with PCA in the presence of population structure.
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DOI:
10.1371/journal.pone.0240429
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发表时间:
2020
期刊:
影响因子:
3.7
通讯作者:
Emrich SJ
Emrich SJ
中科院分区:
综合性期刊3区
文献类型:
--
作者:
Nowling RJ;Manke KR;Emrich SJ

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Chromosomal inversions can lead to reproductive isolation and adaptation in insects such as Drosophila melanogaster and the non-model malaria vector Anopheles gambiae. Inversions can be detected and characterized using principal component analysis (PCA) of single nucleotide polymorphisms (SNPs). To aid in developing such methods, we formed a new benchmark derived from three publicly-available insect data. We then used this benchmark to perform an extended validation of our software for inversion analysis (Asaph). Through that process, we identified and characterized several problematic test cases liable to misinterpretation that can help guide PCA-based inversion detection. Lastly, we re-analyzed the 2R chromosome arm of 150 An. gambiae and coluzzii samples and observed two inversions (2Rc and 2Rd) that were previously known but not annotated in these particular individuals. The resulting benchmark data set and methods will be useful for future inversion detection based solely on SNP data.
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