PCA-based informative SNP selection for analyzing population structure

Phenotypic differences among individuals of the same species are the result of a set of genetic variations which can be observed in the DNA sequence. To conduct a population genetic study, a high throughput genotyping platform such as Single Nucleotide Polymorphism (SNP) array is popularly used to obtain a large set of SNPs for each individual. However, analyzing today's genotypic data can be computationally expensive due to its large size and complexity. Faulty substructure may also be detected if the data is noisy from redundant or non-informative SNPs. Considerable efforts have been done to extract a smaller informative SNP subset that still represents the same intrinsic structure of populations within a data set as the full panel of SNPs. This work describes a foundation of a PCA-based informative marker selection technique. The proposed technique is simple and efficient. It improves upon another spectral analysis technique called PCA-correlated SNPs. A new informativeness score based on a basis function expansion of the SNP variation patterns across individuals is introduced. Such score is computed for each SNP to select a subset of SNPs with the best scores. Using a bovine data set, we demonstrate that our technique is superior to the PCAcorrelated SNPs method, which requires accurate rank estimation to perform well. In contrast, our method is robust to the assumed rank of the data. High data representation accuracy is also achieved after a significant reduction of the number of SNPs while retaining information about the underlying population structure from the original data.