{"id":"https://openalex.org/W4396495316","doi":"https://doi.org/10.1186/s12859-024-05787-6","title":"Assessing the reliability of point mutation as data augmentation for deep learning with genomic data","display_name":"Assessing the reliability of point mutation as data augmentation for deep learning with genomic data","publication_year":2024,"publication_date":"2024-04-30","ids":{"openalex":"https://openalex.org/W4396495316","doi":"https://doi.org/10.1186/s12859-024-05787-6","pmid":"https://pubmed.ncbi.nlm.nih.gov/38689247"},"language":"en","primary_location":{"id":"doi:10.1186/s12859-024-05787-6","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s12859-024-05787-6","pdf_url":"https://bmcbioinformatics.biomedcentral.com/counter/pdf/10.1186/s12859-024-05787-6","source":{"id":"https://openalex.org/S19032547","display_name":"BMC Bioinformatics","issn_l":"1471-2105","issn":["1471-2105"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Bioinformatics","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://bmcbioinformatics.biomedcentral.com/counter/pdf/10.1186/s12859-024-05787-6","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5100426240","display_name":"Hyun\u2010Jung Lee","orcid":"https://orcid.org/0000-0003-4925-5867"},"institutions":[{"id":"https://openalex.org/I197347611","display_name":"Korea University","ror":"https://ror.org/047dqcg40","country_code":"KR","type":"education","lineage":["https://openalex.org/I197347611"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Hyunjung Lee","raw_affiliation_strings":["Korea University, Seoul, South Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Korea University, Seoul, South Korea","institution_ids":["https://openalex.org/I197347611"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008707729","display_name":"Utku \u00d6zbulak","orcid":"https://orcid.org/0000-0003-3084-6034"},"institutions":[{"id":"https://openalex.org/I4210132857","display_name":"Ghent University Global Campus","ror":"https://ror.org/041bygf77","country_code":"KR","type":"education","lineage":["https://openalex.org/I32597200","https://openalex.org/I4210132857"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Utku Ozbulak","raw_affiliation_strings":["Center for Biosystems and Biotech Data Science, Ghent University Global Campus, Incheon, South Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Biosystems and Biotech Data Science, Ghent University Global Campus, Incheon, South Korea","institution_ids":["https://openalex.org/I4210132857"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5081670766","display_name":"Ho-min Park","orcid":"https://orcid.org/0000-0001-9937-8617"},"institutions":[{"id":"https://openalex.org/I32597200","display_name":"Ghent University","ror":"https://ror.org/00cv9y106","country_code":"BE","type":"education","lineage":["https://openalex.org/I32597200"]},{"id":"https://openalex.org/I4210132857","display_name":"Ghent University Global Campus","ror":"https://ror.org/041bygf77","country_code":"KR","type":"education","lineage":["https://openalex.org/I32597200","https://openalex.org/I4210132857"]}],"countries":["BE","KR"],"is_corresponding":false,"raw_author_name":"Homin Park","raw_affiliation_strings":["Center for Biosystems and Biotech Data Science, Ghent University Global Campus, Incheon, South Korea","IDLab, Department of Electronics and Information Systems, Ghent University, Ghent, Belgium"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Biosystems and Biotech Data Science, Ghent University Global Campus, Incheon, South Korea","institution_ids":["https://openalex.org/I4210132857"]},{"raw_affiliation_string":"IDLab, Department of Electronics and Information Systems, Ghent University, Ghent, Belgium","institution_ids":["https://openalex.org/I32597200"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078087019","display_name":"Stephen Depuydt","orcid":"https://orcid.org/0000-0001-8965-1026"},"institutions":[{"id":"https://openalex.org/I98486269","display_name":"Erasmus University College Brussels","ror":"https://ror.org/01767d733","country_code":"BE","type":"education","lineage":["https://openalex.org/I98486269"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Stephen Depuydt","raw_affiliation_strings":["Erasmus Brussels University of Applied Sciences and Arts, Brussels, Belgium"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Erasmus Brussels University of Applied Sciences and Arts, Brussels, Belgium","institution_ids":["https://openalex.org/I98486269"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029555436","display_name":"Wesley De Neve","orcid":"https://orcid.org/0000-0002-8190-3839"},"institutions":[{"id":"https://openalex.org/I32597200","display_name":"Ghent University","ror":"https://ror.org/00cv9y106","country_code":"BE","type":"education","lineage":["https://openalex.org/I32597200"]},{"id":"https://openalex.org/I4210132857","display_name":"Ghent University Global Campus","ror":"https://ror.org/041bygf77","country_code":"KR","type":"education","lineage":["https://openalex.org/I32597200","https://openalex.org/I4210132857"]}],"countries":["BE","KR"],"is_corresponding":false,"raw_author_name":"Wesley De Neve","raw_affiliation_strings":["Center for Biosystems and Biotech Data Science, Ghent University Global Campus, Incheon, South Korea","IDLab, Department of Electronics and Information Systems, Ghent University, Ghent, Belgium"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Biosystems and Biotech Data Science, Ghent University Global Campus, Incheon, South Korea","institution_ids":["https://openalex.org/I4210132857"]},{"raw_affiliation_string":"IDLab, Department of Electronics and Information Systems, Ghent University, Ghent, Belgium","institution_ids":["https://openalex.org/I32597200"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5012688473","display_name":"Joris Vankerschaver","orcid":"https://orcid.org/0000-0002-5813-5659"},"institutions":[{"id":"https://openalex.org/I12607205","display_name":"HOGENT University of Applied Sciences and Arts","ror":"https://ror.org/00rs45z86","country_code":"BE","type":"education","lineage":["https://openalex.org/I12607205"]},{"id":"https://openalex.org/I32597200","display_name":"Ghent University","ror":"https://ror.org/00cv9y106","country_code":"BE","type":"education","lineage":["https://openalex.org/I32597200"]},{"id":"https://openalex.org/I4210132857","display_name":"Ghent University Global Campus","ror":"https://ror.org/041bygf77","country_code":"KR","type":"education","lineage":["https://openalex.org/I32597200","https://openalex.org/I4210132857"]}],"countries":["BE","KR"],"is_corresponding":true,"raw_author_name":"Joris Vankerschaver","raw_affiliation_strings":["Center for Biosystems and Biotech Data Science, Ghent University Global Campus, Incheon, South Korea. joris.vankerschaver@ghent.ac.kr","Department of Applied Mathematics, Computer Science and Statistics, Ghent University, Ghent, Belgium. joris.vankerschaver@ghent.ac.kr","Department of Applied Mathematics, Computer Science and Statistics, Ghent University, Ghent, Belgium"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Biosystems and Biotech Data Science, Ghent University Global Campus, Incheon, South Korea. joris.vankerschaver@ghent.ac.kr","institution_ids":["https://openalex.org/I4210132857"]},{"raw_affiliation_string":"Department of Applied Mathematics, Computer Science and Statistics, Ghent University, Ghent, Belgium. joris.vankerschaver@ghent.ac.kr","institution_ids":["https://openalex.org/I12607205","https://openalex.org/I32597200"]},{"raw_affiliation_string":"Department of Applied Mathematics, Computer Science and Statistics, Ghent University, Ghent, Belgium","institution_ids":["https://openalex.org/I32597200"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5012688473"],"corresponding_institution_ids":["https://openalex.org/I12607205","https://openalex.org/I32597200","https://openalex.org/I4210132857"],"apc_list":{"value":2790,"currency":"USD","value_usd":2790},"apc_paid":{"value":2790,"currency":"USD","value_usd":2790},"fwci":0.9694,"has_fulltext":true,"cited_by_count":6,"citation_normalized_percentile":{"value":0.72715927,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":90,"max":99},"biblio":{"volume":"25","issue":"1","first_page":"170","last_page":"170"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10222","display_name":"Genomics and Chromatin Dynamics","score":0.2752000093460083,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10222","display_name":"Genomics and Chromatin Dynamics","score":0.2752000093460083,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10521","display_name":"RNA and protein synthesis mechanisms","score":0.1746000051498413,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T12254","display_name":"Machine Learning in Bioinformatics","score":0.13770000636577606,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/point-mutation","display_name":"Point mutation","score":0.6320455074310303},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.6177536249160767},{"id":"https://openalex.org/keywords/deep-learning","display_name":"Deep learning","score":0.571112871170044},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.5330124497413635},{"id":"https://openalex.org/keywords/artificial-intelligence","display_name":"Artificial intelligence","score":0.4810912311077118},{"id":"https://openalex.org/keywords/deep-neural-networks","display_name":"Deep neural networks","score":0.4809374213218689},{"id":"https://openalex.org/keywords/mutation","display_name":"Mutation","score":0.4711555242538452},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.4516427516937256},{"id":"https://openalex.org/keywords/missense-mutation","display_name":"Missense mutation","score":0.4469161629676819},{"id":"https://openalex.org/keywords/dna-microarray","display_name":"DNA microarray","score":0.4455667734146118},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.42844194173812866},{"id":"https://openalex.org/keywords/coding","display_name":"Coding (social sciences)","score":0.4273313879966736},{"id":"https://openalex.org/keywords/nonsense-mutation","display_name":"Nonsense mutation","score":0.4122292697429657},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.17674210667610168}],"concepts":[{"id":"https://openalex.org/C176944494","wikidata":"https://www.wikidata.org/wiki/Q1415380","display_name":"Point mutation","level":4,"score":0.6320455074310303},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.6177536249160767},{"id":"https://openalex.org/C108583219","wikidata":"https://www.wikidata.org/wiki/Q197536","display_name":"Deep learning","level":2,"score":0.571112871170044},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5330124497413635},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.4810912311077118},{"id":"https://openalex.org/C2984842247","wikidata":"https://www.wikidata.org/wiki/Q197536","display_name":"Deep neural networks","level":3,"score":0.4809374213218689},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4711555242538452},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4516427516937256},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.4469161629676819},{"id":"https://openalex.org/C95371953","wikidata":"https://www.wikidata.org/wiki/Q591745","display_name":"DNA microarray","level":4,"score":0.4455667734146118},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.42844194173812866},{"id":"https://openalex.org/C179518139","wikidata":"https://www.wikidata.org/wiki/Q5140297","display_name":"Coding (social sciences)","level":2,"score":0.4273313879966736},{"id":"https://openalex.org/C96777560","wikidata":"https://www.wikidata.org/wiki/Q518638","display_name":"Nonsense mutation","level":5,"score":0.4122292697429657},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.17674210667610168},{"id":"https://openalex.org/C33923547","wikidata":"https://www.wikidata.org/wiki/Q395","display_name":"Mathematics","level":0,"score":0.0},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.0},{"id":"https://openalex.org/C105795698","wikidata":"https://www.wikidata.org/wiki/Q12483","display_name":"Statistics","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000077321","descriptor_name":"Deep Learning","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D000077321","descriptor_name":"Deep Learning","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D000077321","descriptor_name":"Deep Learning","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D000077321","descriptor_name":"Deep Learning","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015203","descriptor_name":"Reproducibility of Results","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015203","descriptor_name":"Reproducibility of Results","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015203","descriptor_name":"Reproducibility of Results","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015203","descriptor_name":"Reproducibility of Results","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016571","descriptor_name":"Neural Networks, Computer","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016571","descriptor_name":"Neural Networks, Computer","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016571","descriptor_name":"Neural Networks, Computer","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016571","descriptor_name":"Neural Networks, Computer","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017354","descriptor_name":"Point Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D017354","descriptor_name":"Point Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D017354","descriptor_name":"Point Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D017354","descriptor_name":"Point Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true}],"locations_count":5,"locations":[{"id":"doi:10.1186/s12859-024-05787-6","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s12859-024-05787-6","pdf_url":"https://bmcbioinformatics.biomedcentral.com/counter/pdf/10.1186/s12859-024-05787-6","source":{"id":"https://openalex.org/S19032547","display_name":"BMC Bioinformatics","issn_l":"1471-2105","issn":["1471-2105"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Bioinformatics","raw_type":"journal-article"},{"id":"pmid:38689247","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/38689247","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC bioinformatics","raw_type":null},{"id":"pmh:oai:archive.ugent.be:01HWW1743VJ0Z63MTTAVY0PJQV","is_oa":true,"landing_page_url":"https://biblio.ugent.be/publication/01HWW1743VJ0Z63MTTAVY0PJQV","pdf_url":"https://biblio.ugent.be/publication/01HWW1743VJ0Z63MTTAVY0PJQV/file/01HWW1KVMR4B4QTAT72V3PY9BN.pdf","source":{"id":"https://openalex.org/S4306400478","display_name":"Ghent University Academic Bibliography (Ghent University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I32597200","host_organization_name":"Ghent University","host_organization_lineage":["https://openalex.org/I32597200"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"ISSN: 1471-2105","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:pubmedcentral.nih.gov:11059627","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/11059627","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC11059627/pdf/12859_2024_Article_5787.pdf","source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"BMC Bioinformatics","raw_type":"Text"},{"id":"pmh:oai:doaj.org/article:979cd6ed040146ed80923cd0aca97af4","is_oa":true,"landing_page_url":"https://doaj.org/article/979cd6ed040146ed80923cd0aca97af4","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"BMC Bioinformatics, Vol 25, Iss 1, Pp 1-19 (2024)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1186/s12859-024-05787-6","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s12859-024-05787-6","pdf_url":"https://bmcbioinformatics.biomedcentral.com/counter/pdf/10.1186/s12859-024-05787-6","source":{"id":"https://openalex.org/S19032547","display_name":"BMC Bioinformatics","issn_l":"1471-2105","issn":["1471-2105"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Bioinformatics","raw_type":"journal-article"},"sustainable_development_goals":[],"awards":[{"id":"https://openalex.org/G1336579019","display_name":null,"funder_award_id":"BOF/STA/202109/039","funder_id":"https://openalex.org/F4320335227","funder_display_name":"Bijzonder Onderzoeksfonds UGent"},{"id":"https://openalex.org/G3099665767","display_name":null,"funder_award_id":"BOF/STA/202109/039","funder_id":"https://openalex.org/F4320322603","funder_display_name":"Universiteit Gent"}],"funders":[{"id":"https://openalex.org/F4320322603","display_name":"Universiteit Gent","ror":"https://ror.org/00cv9y106"},{"id":"https://openalex.org/F4320335227","display_name":"Bijzonder Onderzoeksfonds UGent","ror":"https://ror.org/00cv9y106"}],"has_content":{"grobid_xml":false,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4396495316.pdf"},"referenced_works_count":68,"referenced_works":["https://openalex.org/W1554674805","https://openalex.org/W1989621875","https://openalex.org/W1996205594","https://openalex.org/W2006254819","https://openalex.org/W2042147513","https://openalex.org/W2049670319","https://openalex.org/W2052931181","https://openalex.org/W2056967728","https://openalex.org/W2096119887","https://openalex.org/W2106356212","https://openalex.org/W2112702439","https://openalex.org/W2142975014","https://openalex.org/W2146135000","https://openalex.org/W2183672689","https://openalex.org/W2198606573","https://openalex.org/W2464717012","https://openalex.org/W2760053756","https://openalex.org/W2793004654","https://openalex.org/W2794284562","https://openalex.org/W2799812275","https://openalex.org/W2809442901","https://openalex.org/W2809717247","https://openalex.org/W2890430564","https://openalex.org/W2898283559","https://openalex.org/W2900595477","https://openalex.org/W2909194804","https://openalex.org/W2911079020","https://openalex.org/W2919115771","https://openalex.org/W2932524182","https://openalex.org/W2946417913","https://openalex.org/W2950890882","https://openalex.org/W2952087461","https://openalex.org/W2954996726","https://openalex.org/W2963216553","https://openalex.org/W2999515666","https://openalex.org/W3035524453","https://openalex.org/W3035682985","https://openalex.org/W3083874241","https://openalex.org/W3097258506","https://openalex.org/W3126220825","https://openalex.org/W3127745381","https://openalex.org/W3145450063","https://openalex.org/W3159481202","https://openalex.org/W3174828871","https://openalex.org/W3176923149","https://openalex.org/W3189563348","https://openalex.org/W3193877703","https://openalex.org/W3193984652","https://openalex.org/W3208498407","https://openalex.org/W3209455776","https://openalex.org/W3217274194","https://openalex.org/W4284973298","https://openalex.org/W4297493643","https://openalex.org/W4309631408","https://openalex.org/W4312006225","https://openalex.org/W4313156423","https://openalex.org/W4316339986","https://openalex.org/W4320525814","https://openalex.org/W4368617968","https://openalex.org/W4377968299","https://openalex.org/W4382195656","https://openalex.org/W4383342805","https://openalex.org/W6600096918","https://openalex.org/W6600281463","https://openalex.org/W6610385870","https://openalex.org/W6663586751","https://openalex.org/W6702248584","https://openalex.org/W6781533629"],"related_works":["https://openalex.org/W1974547943","https://openalex.org/W2146172507","https://openalex.org/W2049429115","https://openalex.org/W2066798671","https://openalex.org/W1999949036","https://openalex.org/W2108065215","https://openalex.org/W2054591750","https://openalex.org/W2040963109","https://openalex.org/W104894991","https://openalex.org/W4245598715"],"abstract_inverted_index":{"BACKGROUND:":[0],"Deep":[1],"neural":[2,22],"networks":[3],"(DNNs)":[4],"have":[5],"the":[6,51,86,90,128,184],"potential":[7],"to":[8,48,70,155,170],"revolutionize":[9],"our":[10,121],"understanding":[11],"and":[12,80,144,150,162,186],"treatment":[13],"of":[14,20,89,130,188],"genetic":[15],"diseases.":[16],"An":[17],"inherent":[18],"limitation":[19],"deep":[21],"networks,":[23],"however,":[24],"is":[25],"their":[26],"high":[27],"demand":[28],"for":[29,55,102,116,182,191],"data":[30,45,54,59,76,81,99,104,124],"during":[31],"training.":[32],"To":[33],"overcome":[34],"this":[35,93],"challenge,":[36],"other":[37,64],"fields,":[38],"such":[39,140],"as":[40,114,141],"computer":[41],"vision,":[42],"use":[43],"various":[44,133],"augmentation":[46,60,100,125],"techniques":[47,61],"artificially":[49],"increase":[50],"available":[52],"training":[53],"DNNs.":[56],"Unfortunately,":[57],"most":[58],"used":[62],"in":[63,165,176],"domains":[65],"do":[66],"not":[67],"transfer":[68],"well":[69],"genomic":[71,75,103,134,177],"data.":[72,91],"RESULTS:":[73],"Most":[74],"possesses":[77],"peculiar":[78],"properties":[79,88],"augmentations":[82,175],"may":[83],"significantly":[84],"alter":[85],"intrinsic":[87],"In":[92],"work,":[94],"we":[95,118],"propose":[96],"a":[97],"novel":[98],"technique":[101,126],"inspired":[105],"by":[106],"biology:":[107],"point":[108,112,173],"mutations.":[109],"By":[110],"employing":[111],"mutations":[113,152,161,164],"substitutes":[115],"codons,":[117],"demonstrate":[119],"that":[120,136],"newly":[122],"proposed":[123],"enhances":[127],"performance":[129],"DNNs":[131],"across":[132],"tasks":[135],"involve":[137],"coding":[138],"regions,":[139],"translation":[142],"initiation":[143],"splice":[145],"site":[146],"detection.":[147],"CONCLUSION:":[148],"Silent":[149],"missense":[151],"are":[153],"found":[154],"positively":[156],"influence":[157],"effectiveness,":[158],"while":[159],"nonsense":[160],"random":[163],"non-coding":[166],"regions":[167],"generally":[168],"lead":[169],"degradation.":[171],"Overall,":[172],"mutation-based":[174],"datasets":[178],"present":[179],"valuable":[180],"opportunities":[181],"improving":[183],"accuracy":[185],"reliability":[187],"predictive":[189],"models":[190],"DNA":[192],"sequences.":[193]},"counts_by_year":[{"year":2026,"cited_by_count":3},{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":1}],"updated_date":"2026-08-01T09:00:35.917206","created_date":"2025-10-10T00:00:00"}
