FusionAI: Predicting fusion breakpoint from DNA sequence with deep learning

Summary: Identifying the molecular mechanisms related to genomic breakage is an important goal of cancer mechanism studies. Among diverse locations of structural variants, fusion genes, which have the breakpoints in the gene bodies and are typically identified from the split reads of RNA-seq data, c...

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Main Authors: Pora Kim, Hua Tan, Jiajia Liu, Mengyuan Yang, Xiaobo Zhou
Format: Article
Language:English
Published: Elsevier 2021-10-01
Series:iScience
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S2589004221011329
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spelling doaj-8667acc01132414a96cb70642377db162021-10-07T04:26:35ZengElsevieriScience2589-00422021-10-012410103164FusionAI: Predicting fusion breakpoint from DNA sequence with deep learningPora Kim0Hua Tan1Jiajia Liu2Mengyuan Yang3Xiaobo Zhou4School of Biomedical Informatics, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA; Corresponding authorSchool of Biomedical Informatics, The University of Texas Health Science Center at Houston, Houston, TX 77030, USASchool of Biomedical Informatics, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA; College of Electronic and Information Engineering, Tongji University, Shanghai, Shanghai 201804, ChinaSchool of Biomedical Informatics, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA; School of Life Sciences and Technology, Tongji University, Shanghai 200092, ChinaSchool of Biomedical Informatics, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA; McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA; School of Dentistry, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA; Corresponding authorSummary: Identifying the molecular mechanisms related to genomic breakage is an important goal of cancer mechanism studies. Among diverse locations of structural variants, fusion genes, which have the breakpoints in the gene bodies and are typically identified from the split reads of RNA-seq data, can provide a highlighted structural variant resource for studying the genomic breakages with expression and potential pathogenic impacts. In this study, we developed FusionAI, which utilizes deep learning to predict gene fusion breakpoints based on DNA sequence and let us identify fusion breakage code and genomic context. FusionAI leverages the known fusion breakpoints to provide a prediction model of the fusion genes from the primary genomic sequences via deep learning, thereby helping researchers a more accurate selection of fusion genes and better understand genomic breakage.http://www.sciencedirect.com/science/article/pii/S2589004221011329geneticsgenomicscomputational bioinformaticsartificial intelligence applications
collection DOAJ
language English
format Article
sources DOAJ
author Pora Kim
Hua Tan
Jiajia Liu
Mengyuan Yang
Xiaobo Zhou
spellingShingle Pora Kim
Hua Tan
Jiajia Liu
Mengyuan Yang
Xiaobo Zhou
FusionAI: Predicting fusion breakpoint from DNA sequence with deep learning
iScience
genetics
genomics
computational bioinformatics
artificial intelligence applications
author_facet Pora Kim
Hua Tan
Jiajia Liu
Mengyuan Yang
Xiaobo Zhou
author_sort Pora Kim
title FusionAI: Predicting fusion breakpoint from DNA sequence with deep learning
title_short FusionAI: Predicting fusion breakpoint from DNA sequence with deep learning
title_full FusionAI: Predicting fusion breakpoint from DNA sequence with deep learning
title_fullStr FusionAI: Predicting fusion breakpoint from DNA sequence with deep learning
title_full_unstemmed FusionAI: Predicting fusion breakpoint from DNA sequence with deep learning
title_sort fusionai: predicting fusion breakpoint from dna sequence with deep learning
publisher Elsevier
series iScience
issn 2589-0042
publishDate 2021-10-01
description Summary: Identifying the molecular mechanisms related to genomic breakage is an important goal of cancer mechanism studies. Among diverse locations of structural variants, fusion genes, which have the breakpoints in the gene bodies and are typically identified from the split reads of RNA-seq data, can provide a highlighted structural variant resource for studying the genomic breakages with expression and potential pathogenic impacts. In this study, we developed FusionAI, which utilizes deep learning to predict gene fusion breakpoints based on DNA sequence and let us identify fusion breakage code and genomic context. FusionAI leverages the known fusion breakpoints to provide a prediction model of the fusion genes from the primary genomic sequences via deep learning, thereby helping researchers a more accurate selection of fusion genes and better understand genomic breakage.
topic genetics
genomics
computational bioinformatics
artificial intelligence applications
url http://www.sciencedirect.com/science/article/pii/S2589004221011329
work_keys_str_mv AT porakim fusionaipredictingfusionbreakpointfromdnasequencewithdeeplearning
AT huatan fusionaipredictingfusionbreakpointfromdnasequencewithdeeplearning
AT jiajialiu fusionaipredictingfusionbreakpointfromdnasequencewithdeeplearning
AT mengyuanyang fusionaipredictingfusionbreakpointfromdnasequencewithdeeplearning
AT xiaobozhou fusionaipredictingfusionbreakpointfromdnasequencewithdeeplearning
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