Harnessing deep learning for population genetic inference.

Journal: Nature reviews. Genetics
Published Date:

Abstract

In population genetics, the emergence of large-scale genomic data for various species and populations has provided new opportunities to understand the evolutionary forces that drive genetic diversity using statistical inference. However, the era of population genomics presents new challenges in analysing the massive amounts of genomes and variants. Deep learning has demonstrated state-of-the-art performance for numerous applications involving large-scale data. Recently, deep learning approaches have gained popularity in population genetics; facilitated by the advent of massive genomic data sets, powerful computational hardware and complex deep learning architectures, they have been used to identify population structure, infer demographic history and investigate natural selection. Here, we introduce common deep learning architectures and provide comprehensive guidelines for implementing deep learning models for population genetic inference. We also discuss current challenges and future directions for applying deep learning in population genetics, focusing on efficiency, robustness and interpretability.

Authors

  • Xin Huang
    Department of ophthalmology, Jiangxi Provincial People's Hospital, The First Affiliated Hospital of Nanchang Medical College, Nanchang, China.
  • Aigerim Rymbekova
    Department of Evolutionary Anthropology, University of Vienna, Vienna, Austria.
  • Olga Dolgova
    Integrative Genomics Laboratory, CIC bioGUNE - Centro de Investigación Cooperativa en Biociencias, Derio, Biscaya, Spain.
  • Oscar Lao
    CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain; Universitat Pompeu Fabra (UPF), Barcelona, Spain.
  • Martin Kuhlwilm
    Department of Evolutionary Anthropology, University of Vienna, Vienna, Austria. martin.kuhlwilm@univie.ac.at.