ImaGene: a convolutional neural network to quantify natural selection from genomic data.

Journal: BMC bioinformatics
Published Date:

Abstract

BACKGROUND: The genetic bases of many complex phenotypes are still largely unknown, mostly due to the polygenic nature of the traits and the small effect of each associated mutation. An alternative approach to classic association studies to determining such genetic bases is an evolutionary framework. As sites targeted by natural selection are likely to harbor important functionalities for the carrier, the identification of selection signatures in the genome has the potential to unveil the genetic mechanisms underpinning human phenotypes. Popular methods of detecting such signals rely on compressing genomic information into summary statistics, resulting in the loss of information. Furthermore, few methods are able to quantify the strength of selection. Here we explored the use of deep learning in evolutionary biology and implemented a program, called ImaGene, to apply convolutional neural networks on population genomic data for the detection and quantification of natural selection.

Authors

  • Luis Torada
    Department of Life Sciences, Silwood Park campus, Imperial College London, Buckhurst Road, Ascot, SL5 7PY, UK.
  • Lucrezia Lorenzon
    Department of Life Sciences, Silwood Park campus, Imperial College London, Buckhurst Road, Ascot, SL5 7PY, UK.
  • Alice Beddis
    Department of Life Sciences, Silwood Park campus, Imperial College London, Buckhurst Road, Ascot, SL5 7PY, UK.
  • Ulas Isildak
    Department of Biological Sciences, Middle East Technical University, METU Üniversiteler Mah. Dumlupınar Blv. No:1, Ankara, 06800 Çankaya, Turkey.
  • Linda Pattini
    Department of Electronics, Information and Bioengineering, Politecnico di Milano, piazza Leonardo da Vinci 32, Milan, 20133, Italy.
  • Sara Mathieson
    Department of Computer Science, Swarthmore College, 500 College Ave, Swarthmore, 19081, PA, USA.
  • Matteo Fumagalli
    Department of Life Sciences, Silwood Park campus, Imperial College London, Buckhurst Road, Ascot, SL5 7PY, UK. m.fumagalli@imperial.ac.uk.