Predicting the Landscape of Recombination Using Deep Learning.

Abstract:

:Accurately inferring the genome-wide landscape of recombination rates in natural populations is a central aim in genomics, as patterns of linkage influence everything from genetic mapping to understanding evolutionary history. Here, we describe recombination landscape estimation using recurrent neural networks (ReLERNN), a deep learning method for estimating a genome-wide recombination map that is accurate even with small numbers of pooled or individually sequenced genomes. Rather than use summaries of linkage disequilibrium as its input, ReLERNN takes columns from a genotype alignment, which are then modeled as a sequence across the genome using a recurrent neural network. We demonstrate that ReLERNN improves accuracy and reduces bias relative to existing methods and maintains high accuracy in the face of demographic model misspecification, missing genotype calls, and genome inaccessibility. We apply ReLERNN to natural populations of African Drosophila melanogaster and show that genome-wide recombination landscapes, although largely correlated among populations, exhibit important population-specific differences. Lastly, we connect the inferred patterns of recombination with the frequencies of major inversions segregating in natural Drosophila populations.

journal_name

Mol Biol Evol

authors

Adrion JR,Galloway JG,Kern AD

doi

10.1093/molbev/msaa038

subject

Has Abstract

pub_date

2020-06-01 00:00:00

pages

1790-1808

issue

6

eissn

0737-4038

issn

1537-1719

pii

5741419

journal_volume

37

pub_type

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