Evidence map›Paper›PMID 37387128›Full record

ArticleBioinformatics (Oxford, England)2023

Genome-wide scans for selective sweeps using convolutional neural networks.

Hanqing Zhao, Matthijs Souilljee, Pavlos Pavlidis, Nikolaos Alachiotis

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Article in Bioinformatics (Oxford, England), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

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0cells of the map it votes in
5citing papers in PubMed
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1 · What the graph read from it

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3 · Its place in the literature

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5 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

4 authors.

Hanqing ZhaoFaculty of EEMCS, University of Twente, Enschede, The Netherlands.
Matthijs SouilljeeFaculty of EEMCS, University of Twente, Enschede, The Netherlands.
Pavlos PavlidisInstitute of Computer Science, Foundation for Research and Technology-Hellas, Heraklion, Greece.
Nikolaos AlachiotisFaculty of EEMCS, University of Twente, Enschede, The Netherlands.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

motivationRecent methods for selective sweep detection cast the problem as a classification task and use summary statistics as features to capture region characteristics that are indicative of a selective sweep, thereby being sensitive to confounding factors. Furthermore, they are not designed to perform whole-genome scans or to estimate the extent of the genomic region that was affected by positive selection; both are required for identifying candidate genes and the time and strength of selection.

resultsWe present ASDEC (https://github.com/pephco/ASDEC), a neural-network-based framework that can scan whole genomes for selective sweeps. ASDEC achieves similar classification performance to other convolutional neural network-based classifiers that rely on summary statistics, but it is trained 10× faster and classifies genomic regions 5× faster by inferring region characteristics from the raw sequence data directly. Deploying ASDEC for genomic scans achieved up to 15.2× higher sensitivity, 19.4× higher success rates, and 4× higher detection accuracy than state-of-the-art methods. We used ASDEC to scan human chromosome 1 of the Yoruba population (1000Genomes project), identifying nine known candidate genes.

Indexed as

GenomicsNeural Networks, ComputerHumans

Identifiers

PMID37387128
PMCPMC10311404

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.