{"id":"https://openalex.org/W4407691560","doi":"https://doi.org/10.1109/healthcom60970.2024.10880769","title":"Explainable Convolutional Neural Network for Phenotype Prediction from Genotype","display_name":"Explainable Convolutional Neural Network for Phenotype Prediction from Genotype","publication_year":2024,"publication_date":"2024-11-18","ids":{"openalex":"https://openalex.org/W4407691560","doi":"https://doi.org/10.1109/healthcom60970.2024.10880769"},"language":"en","primary_location":{"id":"doi:10.1109/healthcom60970.2024.10880769","is_oa":false,"landing_page_url":"https://doi.org/10.1109/healthcom60970.2024.10880769","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"2024 IEEE International Conference on E-health Networking, Application & Services (HealthCom)","raw_type":"proceedings-article"},"type":"article","indexed_in":["crossref"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5111252684","display_name":"Maxwell Sam","orcid":null},"institutions":[{"id":"https://openalex.org/I35777872","display_name":"North Carolina Agricultural and Technical State University","ror":"https://ror.org/02aze4h65","country_code":"US","type":"education","lineage":["https://openalex.org/I35777872"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Maxwell Sam","raw_affiliation_strings":["North Carolina A&T State University,Department of Computer Science,Greensboro,NC,USA"],"affiliations":[{"raw_affiliation_string":"North Carolina A&T State University,Department of Computer Science,Greensboro,NC,USA","institution_ids":["https://openalex.org/I35777872"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111255044","display_name":"Richard Annan","orcid":null},"institutions":[{"id":"https://openalex.org/I35777872","display_name":"North Carolina Agricultural and Technical State University","ror":"https://ror.org/02aze4h65","country_code":"US","type":"education","lineage":["https://openalex.org/I35777872"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Richard Annan","raw_affiliation_strings":["North Carolina A&T State University,Department of Computer Science,Greensboro,NC,USA"],"affiliations":[{"raw_affiliation_string":"North Carolina A&T State University,Department of Computer Science,Greensboro,NC,USA","institution_ids":["https://openalex.org/I35777872"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077769611","display_name":"Pei Yang","orcid":"https://orcid.org/0000-0003-2765-0401"},"institutions":[{"id":"https://openalex.org/I116265982","display_name":"Qinghai University","ror":"https://ror.org/05h33bt13","country_code":"CN","type":"education","lineage":["https://openalex.org/I116265982"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Pei Yang","raw_affiliation_strings":["Qinghai University,Department of Computer Science,Xining,China"],"affiliations":[{"raw_affiliation_string":"Qinghai University,Department of Computer Science,Xining,China","institution_ids":["https://openalex.org/I116265982"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003653980","display_name":"Mohd Anwar","orcid":"https://orcid.org/0000-0002-2653-7987"},"institutions":[{"id":"https://openalex.org/I35777872","display_name":"North Carolina Agricultural and Technical State University","ror":"https://ror.org/02aze4h65","country_code":"US","type":"education","lineage":["https://openalex.org/I35777872"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Mohd Anwar","raw_affiliation_strings":["North Carolina A&T State University,Department of Computer Science,Greensboro,NC,USA"],"affiliations":[{"raw_affiliation_string":"North Carolina A&T State University,Department of Computer Science,Greensboro,NC,USA","institution_ids":["https://openalex.org/I35777872"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5116309160","display_name":"Kristen Rhinhardt","orcid":null},"institutions":[{"id":"https://openalex.org/I35777872","display_name":"North Carolina Agricultural and Technical State University","ror":"https://ror.org/02aze4h65","country_code":"US","type":"education","lineage":["https://openalex.org/I35777872"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kristen Rhinhardt","raw_affiliation_strings":["Science and Engineering, North Carolina A&T State University,Department of Computational Data,Greensboro,NC,USA"],"affiliations":[{"raw_affiliation_string":"Science and Engineering, North Carolina A&T State University,Department of Computational Data,Greensboro,NC,USA","institution_ids":["https://openalex.org/I35777872"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5021514550","display_name":"Letu Qingge","orcid":"https://orcid.org/0000-0002-9745-9584"},"institutions":[{"id":"https://openalex.org/I35777872","display_name":"North Carolina Agricultural and Technical State University","ror":"https://ror.org/02aze4h65","country_code":"US","type":"education","lineage":["https://openalex.org/I35777872"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Letu Qingge","raw_affiliation_strings":["North Carolina A&T State University,Department of Computer Science,Greensboro,NC,USA"],"affiliations":[{"raw_affiliation_string":"North Carolina A&T State University,Department of Computer Science,Greensboro,NC,USA","institution_ids":["https://openalex.org/I35777872"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5111252684"],"corresponding_institution_ids":["https://openalex.org/I35777872"],"apc_list":null,"apc_paid":null,"fwci":0.2501,"has_fulltext":false,"cited_by_count":1,"citation_normalized_percentile":{"value":0.61266954,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":91,"max":95},"biblio":{"volume":null,"issue":null,"first_page":"1","last_page":"4"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11710","display_name":"Biomedical Text Mining and Ontologies","score":0.9053000211715698,"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/T11710","display_name":"Biomedical Text Mining and Ontologies","score":0.9053000211715698,"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/convolutional-neural-network","display_name":"Convolutional neural network","score":0.7707781791687012},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.6460913419723511},{"id":"https://openalex.org/keywords/phenotype","display_name":"Phenotype","score":0.5367205739021301},{"id":"https://openalex.org/keywords/genotype","display_name":"Genotype","score":0.5291483998298645},{"id":"https://openalex.org/keywords/artificial-intelligence","display_name":"Artificial intelligence","score":0.5153335928916931},{"id":"https://openalex.org/keywords/pattern-recognition","display_name":"Pattern recognition (psychology)","score":0.33280450105667114},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.16805541515350342},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.11705070734024048},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.09489983320236206}],"concepts":[{"id":"https://openalex.org/C81363708","wikidata":"https://www.wikidata.org/wiki/Q17084460","display_name":"Convolutional neural network","level":2,"score":0.7707781791687012},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.6460913419723511},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.5367205739021301},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.5291483998298645},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.5153335928916931},{"id":"https://openalex.org/C153180895","wikidata":"https://www.wikidata.org/wiki/Q7148389","display_name":"Pattern recognition (psychology)","level":2,"score":0.33280450105667114},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.16805541515350342},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.11705070734024048},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.09489983320236206}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1109/healthcom60970.2024.10880769","is_oa":false,"landing_page_url":"https://doi.org/10.1109/healthcom60970.2024.10880769","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"2024 IEEE International Conference on E-health Networking, Application & Services (HealthCom)","raw_type":"proceedings-article"}],"best_oa_location":null,"sustainable_development_goals":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":3,"referenced_works":["https://openalex.org/W2516809705","https://openalex.org/W4382877140","https://openalex.org/W4391923923"],"related_works":["https://openalex.org/W2134373856","https://openalex.org/W2385665726","https://openalex.org/W2347271704","https://openalex.org/W4391621807","https://openalex.org/W2391157579","https://openalex.org/W3029453589","https://openalex.org/W2325793530","https://openalex.org/W2036624756","https://openalex.org/W2033914206","https://openalex.org/W2042327336"],"abstract_inverted_index":{"In":[0,167],"the":[1,6,42,64,157,175,186,192,202,205,210],"realm":[2],"of":[3,8,45,66,139,162,170,177],"precision":[4],"medicine,":[5],"prediction":[7,92,112],"phenotypic":[9],"traits":[10],"from":[11,86],"genotype":[12,33,87,152,206],"data":[13,34],"plays":[14],"a":[15,136],"pivotal":[16],"role":[17],"in":[18,58,93,151,156,204],"understanding":[19,138],"disease":[20],"susceptibility,":[21],"drug":[22],"response,":[23],"and":[24,56,71,106,160,185],"overall":[25],"health":[26],"outcomes.":[27],"Machine":[28],"learning":[29,100],"models":[30,47,101],"trained":[31],"on":[32,77,98,116],"offer":[35],"promising":[36],"avenues":[37],"for":[38],"phenotype":[39,91],"prediction.":[40],"However,":[41],"black-box":[43],"nature":[44],"these":[46],"often":[48],"hinders":[49],"interpretabil-ity,":[50],"raising":[51],"concerns":[52],"about":[53],"their":[54],"reliability":[55],"trustworthiness":[57],"clinical":[59],"decision-making.":[60],"This":[61],"paper":[62],"explores":[63],"application":[65],"SHapley":[67],"Additive":[68],"exPlanations":[69],"(SHAP)":[70],"Local":[72],"Interpretable":[73],"Model-agnostic":[74],"Explanations":[75],"(LIME)":[76],"our":[78,163,168],"existing":[79,164],"CNN":[80,165],"model":[81,104,211],"to":[82,90,123,199],"identify":[83,174],"important":[84,179],"features":[85,150,180,203],"that":[88],"contribute":[89],"yeast":[94],"data.":[95],"Both":[96],"techniques":[97],"machine":[99],"include":[102],"improving":[103],"transparency":[105],"interpretability":[107],"by":[108],"providing":[109],"insights":[110],"into":[111],"mechanisms.":[113],"LIME":[114,183],"focuses":[115],"local":[117],"interpretability,":[118],"explaining":[119],"individual":[120],"predictions":[121],"tailored":[122],"specific":[124],"instances":[125],"swiftly,":[126],"while":[127],"SHAP":[128],"computes":[129],"feature":[130,140],"importance":[131],"using":[132,181,200],"Shapley":[133],"values,":[134],"offering":[135],"comprehensive":[137],"contributions.":[141],"Our":[142],"dataset":[143],"contains":[144],"4,390":[145],"samples,":[146],"each":[147],"with":[148],"28,220":[149],"which":[153,188],"are":[154],"used":[155],"training,":[158],"testing":[159],"validation":[161],"model.":[166],"analysis":[169],"20":[171],"phenotypes,":[172],"we":[173],"number":[176],"relevant":[178],"SHAP,":[182],"methods,":[184],"intersection":[187],"not":[189],"only":[190],"improves":[191],"Mean":[193],"Squared":[194],"Error":[195],"(MSE)":[196],"values":[197],"compared":[198],"all":[201],"data,":[207],"but":[208],"also":[209],"training":[212],"time.":[213]},"counts_by_year":[{"year":2025,"cited_by_count":1}],"updated_date":"2025-12-28T23:10:05.387466","created_date":"2025-10-10T00:00:00"}