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Spatial transformation of multi-omics data unlocks novel insights into cancer biology

The application of next-generation sequencing (NGS) has transformed cancer research. As costs have decreased, NGS has increasingly been applied to generate multiple layers of molecular data from the same samples, covering genomics, transcriptomics, and methylomics. Integrating these types of multi-o...

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Autores principales: Sokač, Mateo, Kjær, Asbjørn, Dyrskjøt, Lars, Haibe-Kains, Benjamin, JWL Aerts, Hugo, Birkbak, Nicolai J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10479962/
https://www.ncbi.nlm.nih.gov/pubmed/37669321
http://dx.doi.org/10.7554/eLife.87133
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author Sokač, Mateo
Kjær, Asbjørn
Dyrskjøt, Lars
Haibe-Kains, Benjamin
JWL Aerts, Hugo
Birkbak, Nicolai J
author_facet Sokač, Mateo
Kjær, Asbjørn
Dyrskjøt, Lars
Haibe-Kains, Benjamin
JWL Aerts, Hugo
Birkbak, Nicolai J
author_sort Sokač, Mateo
collection PubMed
description The application of next-generation sequencing (NGS) has transformed cancer research. As costs have decreased, NGS has increasingly been applied to generate multiple layers of molecular data from the same samples, covering genomics, transcriptomics, and methylomics. Integrating these types of multi-omics data in a combined analysis is now becoming a common issue with no obvious solution, often handled on an ad hoc basis, with multi-omics data arriving in a tabular format and analyzed using computationally intensive statistical methods. These methods particularly ignore the spatial orientation of the genome and often apply stringent p-value corrections that likely result in the loss of true positive associations. Here, we present GENIUS (GEnome traNsformatIon and spatial representation of mUltiomicS data), a framework for integrating multi-omics data using deep learning models developed for advanced image analysis. The GENIUS framework is able to transform multi-omics data into images with genes displayed as spatially connected pixels and successfully extract relevant information with respect to the desired output. We demonstrate the utility of GENIUS by applying the framework to multi-omics datasets from the Cancer Genome Atlas. Our results are focused on predicting the development of metastatic cancer from primary tumors, and demonstrate how through model inference, we are able to extract the genes which are driving the model prediction and are likely associated with metastatic disease progression. We anticipate our framework to be a starting point and strong proof of concept for multi-omics data transformation and analysis without the need for statistical correction.
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spelling pubmed-104799622023-09-06 Spatial transformation of multi-omics data unlocks novel insights into cancer biology Sokač, Mateo Kjær, Asbjørn Dyrskjøt, Lars Haibe-Kains, Benjamin JWL Aerts, Hugo Birkbak, Nicolai J eLife Cancer Biology The application of next-generation sequencing (NGS) has transformed cancer research. As costs have decreased, NGS has increasingly been applied to generate multiple layers of molecular data from the same samples, covering genomics, transcriptomics, and methylomics. Integrating these types of multi-omics data in a combined analysis is now becoming a common issue with no obvious solution, often handled on an ad hoc basis, with multi-omics data arriving in a tabular format and analyzed using computationally intensive statistical methods. These methods particularly ignore the spatial orientation of the genome and often apply stringent p-value corrections that likely result in the loss of true positive associations. Here, we present GENIUS (GEnome traNsformatIon and spatial representation of mUltiomicS data), a framework for integrating multi-omics data using deep learning models developed for advanced image analysis. The GENIUS framework is able to transform multi-omics data into images with genes displayed as spatially connected pixels and successfully extract relevant information with respect to the desired output. We demonstrate the utility of GENIUS by applying the framework to multi-omics datasets from the Cancer Genome Atlas. Our results are focused on predicting the development of metastatic cancer from primary tumors, and demonstrate how through model inference, we are able to extract the genes which are driving the model prediction and are likely associated with metastatic disease progression. We anticipate our framework to be a starting point and strong proof of concept for multi-omics data transformation and analysis without the need for statistical correction. eLife Sciences Publications, Ltd 2023-09-05 /pmc/articles/PMC10479962/ /pubmed/37669321 http://dx.doi.org/10.7554/eLife.87133 Text en © 2023, Sokač et al https://creativecommons.org/licenses/by/4.0/This article is distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use and redistribution provided that the original author and source are credited.
spellingShingle Cancer Biology
Sokač, Mateo
Kjær, Asbjørn
Dyrskjøt, Lars
Haibe-Kains, Benjamin
JWL Aerts, Hugo
Birkbak, Nicolai J
Spatial transformation of multi-omics data unlocks novel insights into cancer biology
title Spatial transformation of multi-omics data unlocks novel insights into cancer biology
title_full Spatial transformation of multi-omics data unlocks novel insights into cancer biology
title_fullStr Spatial transformation of multi-omics data unlocks novel insights into cancer biology
title_full_unstemmed Spatial transformation of multi-omics data unlocks novel insights into cancer biology
title_short Spatial transformation of multi-omics data unlocks novel insights into cancer biology
title_sort spatial transformation of multi-omics data unlocks novel insights into cancer biology
topic Cancer Biology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10479962/
https://www.ncbi.nlm.nih.gov/pubmed/37669321
http://dx.doi.org/10.7554/eLife.87133
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