On two dimensional mappings of SNP marker data and CNNs : Overcoming the limitations of existing methods using Fermat distance.

Elenter, Juan - Etchebarne, Guillermo - Hounie, Ignacio - Fariello, María Inés - Lecumberry, Federico

Resumen:

In recent years, Convolutional Neural Networks have attracted great attention establishing state-of-the-art results in many fields, most notably, in Computer Vision.In an attempt to leverage their success and ubiquity, approaches mapping non-euclidian data into two dimensional image-like feature maps, which are used as inputs to CNN architectures, have been proposed. Such mappings include common dimensionality reduction techniques such as PCA and t-SNE. CNN models trained on these feature maps have been found to perform well on a variety of tasks, ranging from text analysis to tumor classification using gene expression data.We assess these techniques in the context of genome enabled prediction of complex traits, finding that they do not outperform mapping SNP markers to pixels randomly. We also tested random mappings on a synthetic dataset commonly used for benchmarking, with the same outcome. These results contradict the claim that said approach is able to recover and exploit local structure. To account for both the underlying manifold and density from which data is sampled, we propose a method to construct these mappings based on Fermat distance. Our method outperforms other mappings, and thus presents a promising alternative which may potentiate the use of 2D-CNNs on SNP markers and other types of genetic data


Detalles Bibliográficos
2021
Este trabajo fue parcialmente financiado por el proyecto ANII FSDA 1-2018-1-154364.
Genomic prediction
CNN
Dimensionality reduction
Inglés
Universidad de la República
COLIBRI
https://meetings.cshl.edu/meetings.aspx?meet=PROBGEN&year=21
https://hdl.handle.net/20.500.12008/36813
Acceso abierto
Licencia Creative Commons Atribución - No Comercial - Sin Derivadas (CC - By-NC-ND 4.0)
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author Elenter, Juan
author2 Etchebarne, Guillermo
Hounie, Ignacio
Fariello, María Inés
Lecumberry, Federico
author2_role author
author
author
author
author_facet Elenter, Juan
Etchebarne, Guillermo
Hounie, Ignacio
Fariello, María Inés
Lecumberry, Federico
author_role author
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dc.contributor.filiacion.none.fl_str_mv Elenter Juan, Universidad de la República (Uruguay). Facultad de Ingeniería.
Etchebarne Guillermo, Universidad de la República (Uruguay). Facultad de Ingeniería.
Hounie Ignacio, Universidad de la República (Uruguay). Facultad de Ingeniería.
Fariello María Inés, Universidad de la República (Uruguay). Facultad de Ingeniería.
Lecumberry Federico, Universidad de la República (Uruguay). Facultad de Ingeniería.
dc.creator.none.fl_str_mv Elenter, Juan
Etchebarne, Guillermo
Hounie, Ignacio
Fariello, María Inés
Lecumberry, Federico
dc.date.accessioned.none.fl_str_mv 2023-04-26T11:46:54Z
dc.date.available.none.fl_str_mv 2023-04-26T11:46:54Z
dc.date.issued.none.fl_str_mv 2021
dc.description.abstract.none.fl_txt_mv In recent years, Convolutional Neural Networks have attracted great attention establishing state-of-the-art results in many fields, most notably, in Computer Vision.In an attempt to leverage their success and ubiquity, approaches mapping non-euclidian data into two dimensional image-like feature maps, which are used as inputs to CNN architectures, have been proposed. Such mappings include common dimensionality reduction techniques such as PCA and t-SNE. CNN models trained on these feature maps have been found to perform well on a variety of tasks, ranging from text analysis to tumor classification using gene expression data.We assess these techniques in the context of genome enabled prediction of complex traits, finding that they do not outperform mapping SNP markers to pixels randomly. We also tested random mappings on a synthetic dataset commonly used for benchmarking, with the same outcome. These results contradict the claim that said approach is able to recover and exploit local structure. To account for both the underlying manifold and density from which data is sampled, we propose a method to construct these mappings based on Fermat distance. Our method outperforms other mappings, and thus presents a promising alternative which may potentiate the use of 2D-CNNs on SNP markers and other types of genetic data
dc.description.es.fl_txt_mv Los experimentos presentados en este trabajo se realizaron utilizando ClusterUy (sitio: https://cluster.uy).
dc.description.sponsorship.none.fl_txt_mv Este trabajo fue parcialmente financiado por el proyecto ANII FSDA 1-2018-1-154364.
dc.format.extent.es.fl_str_mv 1 p.
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dc.identifier.citation.es.fl_str_mv Elenter, J., Etchebarne, G., Hounie, I. y otros. On two dimensional mappings of SNP marker data and CNNs : Overcoming the limitations of existing methods using Fermat distance. [en línea]. Póster, 2021.
dc.identifier.uri.none.fl_str_mv https://meetings.cshl.edu/meetings.aspx?meet=PROBGEN&year=21
https://hdl.handle.net/20.500.12008/36813
dc.language.iso.none.fl_str_mv en
eng
dc.publisher.es.fl_str_mv Cold Spring Harbor Laboratory (CSHL)
dc.relation.ispartof.es.fl_str_mv Probabilistic Modeling in Genomics : Virtual Meeting, 14-16 apr. 2021, Cold Spring Harbor, NY, USA
dc.rights.license.none.fl_str_mv Licencia Creative Commons Atribución - No Comercial - Sin Derivadas (CC - By-NC-ND 4.0)
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
dc.source.none.fl_str_mv reponame:COLIBRI
instname:Universidad de la República
instacron:Universidad de la República
dc.subject.es.fl_str_mv Genomic prediction
CNN
Dimensionality reduction
dc.title.none.fl_str_mv On two dimensional mappings of SNP marker data and CNNs : Overcoming the limitations of existing methods using Fermat distance.
dc.type.es.fl_str_mv Póster
dc.type.none.fl_str_mv info:eu-repo/semantics/conferenceObject
dc.type.version.none.fl_str_mv info:eu-repo/semantics/publishedVersion
description Los experimentos presentados en este trabajo se realizaron utilizando ClusterUy (sitio: https://cluster.uy).
eu_rights_str_mv openAccess
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identifier_str_mv Elenter, J., Etchebarne, G., Hounie, I. y otros. On two dimensional mappings of SNP marker data and CNNs : Overcoming the limitations of existing methods using Fermat distance. [en línea]. Póster, 2021.
instacron_str Universidad de la República
institution Universidad de la República
instname_str Universidad de la República
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oai_identifier_str oai:colibri.udelar.edu.uy:20.500.12008/36813
publishDate 2021
reponame_str COLIBRI
repository.mail.fl_str_mv mabel.seroubian@seciu.edu.uy
repository.name.fl_str_mv COLIBRI - Universidad de la República
repository_id_str 4771
rights_invalid_str_mv Licencia Creative Commons Atribución - No Comercial - Sin Derivadas (CC - By-NC-ND 4.0)
spelling Elenter Juan, Universidad de la República (Uruguay). Facultad de Ingeniería.Etchebarne Guillermo, Universidad de la República (Uruguay). Facultad de Ingeniería.Hounie Ignacio, Universidad de la República (Uruguay). Facultad de Ingeniería.Fariello María Inés, Universidad de la República (Uruguay). Facultad de Ingeniería.Lecumberry Federico, Universidad de la República (Uruguay). Facultad de Ingeniería.2023-04-26T11:46:54Z2023-04-26T11:46:54Z2021Elenter, J., Etchebarne, G., Hounie, I. y otros. On two dimensional mappings of SNP marker data and CNNs : Overcoming the limitations of existing methods using Fermat distance. [en línea]. Póster, 2021.https://meetings.cshl.edu/meetings.aspx?meet=PROBGEN&year=21https://hdl.handle.net/20.500.12008/36813Los experimentos presentados en este trabajo se realizaron utilizando ClusterUy (sitio: https://cluster.uy).In recent years, Convolutional Neural Networks have attracted great attention establishing state-of-the-art results in many fields, most notably, in Computer Vision.In an attempt to leverage their success and ubiquity, approaches mapping non-euclidian data into two dimensional image-like feature maps, which are used as inputs to CNN architectures, have been proposed. Such mappings include common dimensionality reduction techniques such as PCA and t-SNE. CNN models trained on these feature maps have been found to perform well on a variety of tasks, ranging from text analysis to tumor classification using gene expression data.We assess these techniques in the context of genome enabled prediction of complex traits, finding that they do not outperform mapping SNP markers to pixels randomly. We also tested random mappings on a synthetic dataset commonly used for benchmarking, with the same outcome. These results contradict the claim that said approach is able to recover and exploit local structure. To account for both the underlying manifold and density from which data is sampled, we propose a method to construct these mappings based on Fermat distance. Our method outperforms other mappings, and thus presents a promising alternative which may potentiate the use of 2D-CNNs on SNP markers and other types of genetic dataSubmitted by Ribeiro Jorge (jribeiro@fing.edu.uy) on 2023-04-24T02:08:19Z No. of bitstreams: 2 license_rdf: 23149 bytes, checksum: 1996b8461bc290aef6a27d78c67b6b52 (MD5) EEHFL21.pdf: 1232263 bytes, checksum: 46d4db5e08970d6f8c8d0defca3a0e4e (MD5)Approved for entry into archive by Machado Jimena (jmachado@fing.edu.uy) on 2023-04-24T20:18:47Z (GMT) No. of bitstreams: 2 license_rdf: 23149 bytes, checksum: 1996b8461bc290aef6a27d78c67b6b52 (MD5) EEHFL21.pdf: 1232263 bytes, checksum: 46d4db5e08970d6f8c8d0defca3a0e4e (MD5)Made available in DSpace by Luna Fabiana (fabiana.luna@seciu.edu.uy) on 2023-04-26T11:46:54Z (GMT). No. of bitstreams: 2 license_rdf: 23149 bytes, checksum: 1996b8461bc290aef6a27d78c67b6b52 (MD5) EEHFL21.pdf: 1232263 bytes, checksum: 46d4db5e08970d6f8c8d0defca3a0e4e (MD5) Previous issue date: 2021Este trabajo fue parcialmente financiado por el proyecto ANII FSDA 1-2018-1-154364.1 p.application/pdfenengCold Spring Harbor Laboratory (CSHL)Probabilistic Modeling in Genomics : Virtual Meeting, 14-16 apr. 2021, Cold Spring Harbor, NY, USALas obras depositadas en el Repositorio se rigen por la Ordenanza de los Derechos de la Propiedad Intelectual de la Universidad de la República.(Res. Nº 91 de C.D.C. de 8/III/1994 – D.O. 7/IV/1994) y por la Ordenanza del Repositorio Abierto de la Universidad de la República (Res. 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- Universidad de la Repúblicafalse
spellingShingle On two dimensional mappings of SNP marker data and CNNs : Overcoming the limitations of existing methods using Fermat distance.
Elenter, Juan
Genomic prediction
CNN
Dimensionality reduction
status_str publishedVersion
title On two dimensional mappings of SNP marker data and CNNs : Overcoming the limitations of existing methods using Fermat distance.
title_full On two dimensional mappings of SNP marker data and CNNs : Overcoming the limitations of existing methods using Fermat distance.
title_fullStr On two dimensional mappings of SNP marker data and CNNs : Overcoming the limitations of existing methods using Fermat distance.
title_full_unstemmed On two dimensional mappings of SNP marker data and CNNs : Overcoming the limitations of existing methods using Fermat distance.
title_short On two dimensional mappings of SNP marker data and CNNs : Overcoming the limitations of existing methods using Fermat distance.
title_sort On two dimensional mappings of SNP marker data and CNNs : Overcoming the limitations of existing methods using Fermat distance.
topic Genomic prediction
CNN
Dimensionality reduction
url https://meetings.cshl.edu/meetings.aspx?meet=PROBGEN&year=21
https://hdl.handle.net/20.500.12008/36813