KLFDAPC: a supervised machine learning approach for spatial genetic structure analysis

Xinghu Qin*, Charleston W K Chiang, Oscar E Gaggiotti

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

3 Citations (Scopus)
6 Downloads (Pure)

Abstract

Geographic patterns of human genetic variation provide important insights into human evolution and disease. A commonly used tool to detect and describe them is principal component analysis (PCA) or the supervised linear discriminant analysis of principal components (DAPC). However, genetic features produced from both approaches could fail to correctly characterize population structure for complex scenarios involving admixture. In this study, we introduce Kernel Local Fisher Discriminant Analysis of Principal Components (KLFDAPC), a supervised non-linear approach for inferring individual geographic genetic structure that could rectify the limitations of these approaches by preserving the multimodal space of samples. We tested the power of KLFDAPC to infer population structure and to predict individual geographic origin using neural networks. Simulation results showed that KLFDAPC has higher discriminatory power than PCA and DAPC. The application of our method to empirical European and East Asian genome-wide genetic datasets indicated that the first two reduced features of KLFDAPC correctly recapitulated the geography of individuals and significantly improved the accuracy of predicting individual geographic origin when compared to PCA and DAPC. Therefore, KLFDAPC can be useful for geographic ancestry inference, design of genome scans and correction for spatial stratification in GWAS that link genes to adaptation or disease susceptibility.

Original languageEnglish
Article numberbbac202
Number of pages16
JournalBriefings in Bioinformatics
Volume23
Issue number4
Early online date2 Jun 2022
DOIs
Publication statusPublished - 1 Jul 2022

Keywords

  • Machine learning
  • Population structure
  • Individual geographic origin

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