Literature DB >> 33244210

A Likelihood-Free Inference Framework for Population Genetic Data using Exchangeable Neural Networks.

Jeffrey Chan1, Valerio Perrone2, Jeffrey P Spence1, Paul A Jenkins2, Sara Mathieson3, Yun S Song1.   

Abstract

An explosion of high-throughput DNA sequencing in the past decade has led to a surge of interest in population-scale inference with whole-genome data. Recent work in population genetics has centered on designing inference methods for relatively simple model classes, and few scalable general-purpose inference techniques exist for more realistic, complex models. To achieve this, two inferential challenges need to be addressed: (1) population data are exchangeable, calling for methods that efficiently exploit the symmetries of the data, and (2) computing likelihoods is intractable as it requires integrating over a set of correlated, extremely high-dimensional latent variables. These challenges are traditionally tackled by likelihood-free methods that use scientific simulators to generate datasets and reduce them to hand-designed, permutation-invariant summary statistics, often leading to inaccurate inference. In this work, we develop an exchangeable neural network that performs summary statistic-free, likelihood-free inference. Our framework can be applied in a black-box fashion across a variety of simulation-based tasks, both within and outside biology. We demonstrate the power of our approach on the recombination hotspot testing problem, outperforming the state-of-the-art.

Entities:  

Year:  2018        PMID: 33244210      PMCID: PMC7687905     

Source DB:  PubMed          Journal:  Adv Neural Inf Process Syst        ISSN: 1049-5258


  18 in total

1.  Population growth of human Y chromosomes: a study of Y chromosome microsatellites.

Authors:  J K Pritchard; M T Seielstad; A Perez-Lezaun; M W Feldman
Journal:  Mol Biol Evol       Date:  1999-12       Impact factor: 16.240

2.  Approximate Bayesian computation in population genetics.

Authors:  Mark A Beaumont; Wenyang Zhang; David J Balding
Journal:  Genetics       Date:  2002-12       Impact factor: 4.562

3.  Searching for footprints of positive selection in whole-genome SNP data from nonequilibrium populations.

Authors:  Pavlos Pavlidis; Jeffrey D Jensen; Wolfgang Stephan
Journal:  Genetics       Date:  2010-04-20       Impact factor: 4.562

4.  A new method for detecting human recombination hotspots and its applications to the HapMap ENCODE data.

Authors:  Jun Li; Michael Q Zhang; Xuegong Zhang
Journal:  Am J Hum Genet       Date:  2006-08-30       Impact factor: 11.025

5.  SequenceLDhot: detecting recombination hotspots.

Authors:  Paul Fearnhead
Journal:  Bioinformatics       Date:  2006-10-23       Impact factor: 6.937

6.  Efficient approximate Bayesian computation coupled with Markov chain Monte Carlo without likelihood.

Authors:  Daniel Wegmann; Christoph Leuenberger; Laurent Excoffier
Journal:  Genetics       Date:  2009-06-08       Impact factor: 4.562

7.  Deep Learning for Population Genetic Inference.

Authors:  Sara Sheehan; Yun S Song
Journal:  PLoS Comput Biol       Date:  2016-03-28       Impact factor: 4.475

8.  The Unreasonable Effectiveness of Convolutional Neural Networks in Population Genetic Inference.

Authors:  Lex Flagel; Yaniv Brandvain; Daniel R Schrider
Journal:  Mol Biol Evol       Date:  2019-02-01       Impact factor: 16.240

9.  Inferring Population Size History from Large Samples of Genome-Wide Molecular Data - An Approximate Bayesian Computation Approach.

Authors:  Simon Boitard; Willy Rodríguez; Flora Jay; Stefano Mona; Frédéric Austerlitz
Journal:  PLoS Genet       Date:  2016-03-04       Impact factor: 5.917

10.  Detecting Recombination Hotspots from Patterns of Linkage Disequilibrium.

Authors:  Jeffrey D Wall; Laurie S Stevison
Journal:  G3 (Bethesda)       Date:  2016-08-09       Impact factor: 3.154

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  9 in total

1.  Accurate Inference of Tree Topologies from Multiple Sequence Alignments Using Deep Learning.

Authors:  Anton Suvorov; Joshua Hochuli; Daniel R Schrider
Journal:  Syst Biol       Date:  2020-03-01       Impact factor: 15.683

2.  Haplotype and population structure inference using neural networks in whole-genome sequencing data.

Authors:  Jonas Meisner; Anders Albrechtsen
Journal:  Genome Res       Date:  2022-07-06       Impact factor: 9.438

3.  Efficient ancestry and mutation simulation with msprime 1.0.

Authors:  Franz Baumdicker; Gertjan Bisschop; Daniel Goldstein; Graham Gower; Aaron P Ragsdale; Georgia Tsambos; Sha Zhu; Bjarki Eldon; E Castedo Ellerman; Jared G Galloway; Ariella L Gladstein; Gregor Gorjanc; Bing Guo; Ben Jeffery; Warren W Kretzschumar; Konrad Lohse; Michael Matschiner; Dominic Nelson; Nathaniel S Pope; Consuelo D Quinto-Cortés; Murillo F Rodrigues; Kumar Saunack; Thibaut Sellinger; Kevin Thornton; Hugo van Kemenade; Anthony W Wohns; Yan Wong; Simon Gravel; Andrew D Kern; Jere Koskela; Peter L Ralph; Jerome Kelleher
Journal:  Genetics       Date:  2022-03-03       Impact factor: 4.402

4.  A deep learning framework for characterization of genotype data.

Authors:  Kristiina Ausmees; Carl Nettelblad
Journal:  G3 (Bethesda)       Date:  2022-03-04       Impact factor: 3.154

5.  Neural networks for self-adjusting mutation rate estimation when the recombination rate is unknown.

Authors:  Klara Elisabeth Burger; Peter Pfaffelhuber; Franz Baumdicker
Journal:  PLoS Comput Biol       Date:  2022-08-03       Impact factor: 4.779

6.  Chromosome-scale inference of hybrid speciation and admixture with convolutional neural networks.

Authors:  Paul D Blischak; Michael S Barker; Ryan N Gutenkunst
Journal:  Mol Ecol Resour       Date:  2021-03-08       Impact factor: 7.090

7.  Using deep learning to identify recent positive selection in malaria parasite sequence data.

Authors:  Luigi Palla; Taane G Clark; Wouter Deelder; Ernest Diez Benavente; Jody Phelan; Emilia Manko; Susana Campino
Journal:  Malar J       Date:  2021-06-14       Impact factor: 2.979

Review 8.  Our Tangled Family Tree: New Genomic Methods Offer Insight into the Legacy of Archaic Admixture.

Authors:  K D Ahlquist; Mayra M Bañuelos; Alyssa Funk; Jiaying Lai; Stephen Rong; Fernando A Villanea; Kelsey E Witt
Journal:  Genome Biol Evol       Date:  2021-07-06       Impact factor: 3.416

9.  Discovery of Ongoing Selective Sweeps within Anopheles Mosquito Populations Using Deep Learning.

Authors:  Alexander T Xue; Daniel R Schrider; Andrew D Kern
Journal:  Mol Biol Evol       Date:  2021-03-09       Impact factor: 16.240

  9 in total

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