Deciphering signatures of natural selection via deep learning.

Journal: Briefings in bioinformatics
Published Date:

Abstract

Identifying genomic regions influenced by natural selection provides fundamental insights into the genetic basis of local adaptation. However, it remains challenging to detect loci under complex spatially varying selection. We propose a deep learning-based framework, DeepGenomeScan, which can detect signatures of spatially varying selection. We demonstrate that DeepGenomeScan outperformed principal component analysis- and redundancy analysis-based genome scans in identifying loci underlying quantitative traits subject to complex spatial patterns of selection. Noticeably, DeepGenomeScan increases statistical power by up to 47.25% under nonlinear environmental selection patterns. We applied DeepGenomeScan to a European human genetic dataset and identified some well-known genes under selection and a substantial number of clinically important genes that were not identified by SPA, iHS, Fst and Bayenv when applied to the same dataset.

Authors

  • Xinghu Qin
    Centre for Biological Diversity, Sir Harold Mitchell Building, University of St Andrews, Fife, KY16 9TF, UK.
  • Charleston W K Chiang
    Center for Genetic Epidemiology, Department of Population and Public Health Sciences, Keck School of Medicine & Department of Quantitative and Computational Biology, University of Southern California, USA.
  • Oscar E Gaggiotti
    Centre for Biological Diversity, Sir Harold Mitchell Building, University of St Andrews, Fife, KY16 9TF, UK.