{"id":"https://openalex.org/W4385212696","doi":"https://doi.org/10.1371/journal.pcbi.1011249","title":"DeepGenePrior: A deep learning model for prioritizing genes affected by copy number variants","display_name":"DeepGenePrior: A deep learning model for prioritizing genes affected by copy number variants","publication_year":2023,"publication_date":"2023-07-24","ids":{"openalex":"https://openalex.org/W4385212696","doi":"https://doi.org/10.1371/journal.pcbi.1011249","pmid":"https://pubmed.ncbi.nlm.nih.gov/37486921"},"language":"en","primary_location":{"id":"doi:10.1371/journal.pcbi.1011249","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pcbi.1011249","pdf_url":"https://journals.plos.org/ploscompbiol/article/file?id=10.1371/journal.pcbi.1011249&type=printable","source":{"id":"https://openalex.org/S86033158","display_name":"PLoS Computational Biology","issn_l":"1553-734X","issn":["1553-734X","1553-7358"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLOS Computational Biology","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://journals.plos.org/ploscompbiol/article/file?id=10.1371/journal.pcbi.1011249&type=printable","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5012172021","display_name":"Zahra Rahaie","orcid":null},"institutions":[{"id":"https://openalex.org/I133529467","display_name":"Sharif University of Technology","ror":"https://ror.org/024c2fq17","country_code":"IR","type":"education","lineage":["https://openalex.org/I133529467"]}],"countries":["IR"],"is_corresponding":true,"raw_author_name":"Zahra Rahaie","raw_affiliation_strings":["BCB Group, DML, Department of Computer Engineering, Sharif University of Technology, Tehran, Iran"],"affiliations":[{"raw_affiliation_string":"BCB Group, DML, Department of Computer Engineering, Sharif University of Technology, Tehran, Iran","institution_ids":["https://openalex.org/I133529467"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5063512925","display_name":"Hamid R. Rabiee","orcid":"https://orcid.org/0000-0002-9835-4493"},"institutions":[{"id":"https://openalex.org/I133529467","display_name":"Sharif University of Technology","ror":"https://ror.org/024c2fq17","country_code":"IR","type":"education","lineage":["https://openalex.org/I133529467"]}],"countries":["IR"],"is_corresponding":true,"raw_author_name":"Hamid R. Rabiee","raw_affiliation_strings":["BCB Group, DML, Department of Computer Engineering, Sharif University of Technology, Tehran, Iran"],"affiliations":[{"raw_affiliation_string":"BCB Group, DML, Department of Computer Engineering, Sharif University of Technology, Tehran, Iran","institution_ids":["https://openalex.org/I133529467"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5019852514","display_name":"Hamid Alinejad\u2010Rokny","orcid":"https://orcid.org/0000-0002-2189-9153"},"institutions":[{"id":"https://openalex.org/I31746571","display_name":"UNSW Sydney","ror":"https://ror.org/03r8z3t63","country_code":"AU","type":"education","lineage":["https://openalex.org/I31746571"]}],"countries":["AU"],"is_corresponding":true,"raw_author_name":"Hamid Alinejad-Rokny","raw_affiliation_strings":["UNSW Biomedical Machine Learning Lab (BML), the Graduate School of Biomedical Engineering, UNSW Sydney, Sydney, Australia"],"affiliations":[{"raw_affiliation_string":"UNSW Biomedical Machine Learning Lab (BML), the Graduate School of Biomedical Engineering, UNSW Sydney, Sydney, Australia","institution_ids":["https://openalex.org/I31746571"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5012172021","https://openalex.org/A5019852514","https://openalex.org/A5063512925"],"corresponding_institution_ids":["https://openalex.org/I133529467","https://openalex.org/I31746571"],"apc_list":{"value":2655,"currency":"USD","value_usd":2655},"apc_paid":{"value":2655,"currency":"USD","value_usd":2655},"fwci":0.9294,"has_fulltext":true,"cited_by_count":3,"citation_normalized_percentile":{"value":0.79925671,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":90,"max":96},"biblio":{"volume":"19","issue":"7","first_page":"e1011249","last_page":"e1011249"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9991000294685364,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9991000294685364,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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/T11642","display_name":"Genomics and Rare Diseases","score":0.9987000226974487,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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/T10885","display_name":"Gene expression and cancer classification","score":0.9951000213623047,"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/candidate-gene","display_name":"Candidate gene","score":0.7120460867881775},{"id":"https://openalex.org/keywords/copy-number-variation","display_name":"Copy-number variation","score":0.6868666410446167},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.6601701974868774},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.6213443279266357},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.5847644805908203},{"id":"https://openalex.org/keywords/autism","display_name":"Autism","score":0.5381646156311035},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.4984910488128662},{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.47859999537467957},{"id":"https://openalex.org/keywords/genome-wide-association-study","display_name":"Genome-wide association study","score":0.43537187576293945},{"id":"https://openalex.org/keywords/phenotype","display_name":"Phenotype","score":0.4270261526107788},{"id":"https://openalex.org/keywords/disease","display_name":"Disease","score":0.41792604327201843},{"id":"https://openalex.org/keywords/bioinformatics","display_name":"Bioinformatics","score":0.32219165563583374},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphism","display_name":"Single-nucleotide polymorphism","score":0.1580568253993988},{"id":"https://openalex.org/keywords/medicine","display_name":"Medicine","score":0.15252956748008728},{"id":"https://openalex.org/keywords/genotype","display_name":"Genotype","score":0.12169665098190308}],"concepts":[{"id":"https://openalex.org/C69991583","wikidata":"https://www.wikidata.org/wiki/Q1423575","display_name":"Candidate gene","level":3,"score":0.7120460867881775},{"id":"https://openalex.org/C120821319","wikidata":"https://www.wikidata.org/wiki/Q1501491","display_name":"Copy-number variation","level":4,"score":0.6868666410446167},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.6601701974868774},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6213443279266357},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5847644805908203},{"id":"https://openalex.org/C205778803","wikidata":"https://www.wikidata.org/wiki/Q38404","display_name":"Autism","level":2,"score":0.5381646156311035},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.4984910488128662},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.47859999537467957},{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.43537187576293945},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.4270261526107788},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.41792604327201843},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.32219165563583374},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.1580568253993988},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.15252956748008728},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.12169665098190308},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.0},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","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":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001321","descriptor_name":"Autistic Disorder","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D001321","descriptor_name":"Autistic Disorder","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D001321","descriptor_name":"Autistic Disorder","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056915","descriptor_name":"DNA Copy Number Variations","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D056915","descriptor_name":"DNA Copy Number Variations","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D056915","descriptor_name":"DNA Copy Number Variations","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1371/journal.pcbi.1011249","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pcbi.1011249","pdf_url":"https://journals.plos.org/ploscompbiol/article/file?id=10.1371/journal.pcbi.1011249&type=printable","source":{"id":"https://openalex.org/S86033158","display_name":"PLoS Computational Biology","issn_l":"1553-734X","issn":["1553-734X","1553-7358"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLOS Computational Biology","raw_type":"journal-article"},{"id":"pmid:37486921","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/37486921","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":"PLoS computational biology","raw_type":null},{"id":"pmh:oai:pubmedcentral.nih.gov:10399873","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/10399873","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC10399873/pdf/pcbi.1011249.pdf","source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"PLoS Comput Biol","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1371/journal.pcbi.1011249","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pcbi.1011249","pdf_url":"https://journals.plos.org/ploscompbiol/article/file?id=10.1371/journal.pcbi.1011249&type=printable","source":{"id":"https://openalex.org/S86033158","display_name":"PLoS Computational Biology","issn_l":"1553-734X","issn":["1553-734X","1553-7358"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLOS Computational Biology","raw_type":"journal-article"},"sustainable_development_goals":[],"awards":[{"id":"https://openalex.org/G1068576002","display_name":null,"funder_award_id":"DE220101210","funder_id":"https://openalex.org/F4320313567","funder_display_name":"University of New South Wales Canberra"},{"id":"https://openalex.org/G3423493746","display_name":null,"funder_award_id":"96006077","funder_id":"https://openalex.org/F4320322243","funder_display_name":"Iran National Science Foundation"},{"id":"https://openalex.org/G6894402473","display_name":null,"funder_award_id":"Fellowship","funder_id":"https://openalex.org/F4320306076","funder_display_name":"National Science Foundation"},{"id":"https://openalex.org/G6987110935","display_name":null,"funder_award_id":"(INSF","funder_id":"https://openalex.org/F4320322243","funder_display_name":"Iran National Science Foundation"},{"id":"https://openalex.org/G7247282896","display_name":null,"funder_award_id":"DE220101210","funder_id":"https://openalex.org/F4320334704","funder_display_name":"Australian Research Council"},{"id":"https://openalex.org/G848032724","display_name":null,"funder_award_id":"Science","funder_id":"https://openalex.org/F4320306076","funder_display_name":"National Science Foundation"},{"id":"https://openalex.org/G8632903592","display_name":null,"funder_award_id":"(INSF)","funder_id":"https://openalex.org/F4320322243","funder_display_name":"Iran National Science Foundation"},{"id":"https://openalex.org/G8662516559","display_name":null,"funder_award_id":"2201012","funder_id":"https://openalex.org/F4320306076","funder_display_name":"National Science Foundation"}],"funders":[{"id":"https://openalex.org/F4320306076","display_name":"National Science Foundation","ror":"https://ror.org/021nxhr62"},{"id":"https://openalex.org/F4320313567","display_name":"University of New South Wales Canberra","ror":null},{"id":"https://openalex.org/F4320320965","display_name":"University of New South Wales","ror":"https://ror.org/03r8z3t63"},{"id":"https://openalex.org/F4320322243","display_name":"Iran National Science Foundation","ror":"https://ror.org/03sr1ma14"},{"id":"https://openalex.org/F4320334704","display_name":"Australian Research Council","ror":"https://ror.org/05mmh0f86"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4385212696.pdf","grobid_xml":"https://content.openalex.org/works/W4385212696.grobid-xml"},"referenced_works_count":70,"referenced_works":["https://openalex.org/W44387426","https://openalex.org/W44917673","https://openalex.org/W1564359252","https://openalex.org/W1964512314","https://openalex.org/W1976555450","https://openalex.org/W1986223165","https://openalex.org/W2003479128","https://openalex.org/W2005290050","https://openalex.org/W2016768365","https://openalex.org/W2022163189","https://openalex.org/W2036841261","https://openalex.org/W2068537457","https://openalex.org/W2079364348","https://openalex.org/W2090247362","https://openalex.org/W2103017472","https://openalex.org/W2106650442","https://openalex.org/W2108501770","https://openalex.org/W2117403647","https://openalex.org/W2119418518","https://openalex.org/W2124649657","https://openalex.org/W2128016314","https://openalex.org/W2129560785","https://openalex.org/W2129867386","https://openalex.org/W2130930065","https://openalex.org/W2132056568","https://openalex.org/W2136514583","https://openalex.org/W2144606631","https://openalex.org/W2146545950","https://openalex.org/W2152938409","https://openalex.org/W2155945003","https://openalex.org/W2161633633","https://openalex.org/W2170290905","https://openalex.org/W2225391592","https://openalex.org/W2282821441","https://openalex.org/W2324728706","https://openalex.org/W2343509590","https://openalex.org/W2415139834","https://openalex.org/W2499863930","https://openalex.org/W2537679995","https://openalex.org/W2551102722","https://openalex.org/W2593488635","https://openalex.org/W2737559704","https://openalex.org/W2770609983","https://openalex.org/W2789725201","https://openalex.org/W2805785669","https://openalex.org/W2808373515","https://openalex.org/W2901159219","https://openalex.org/W2904799524","https://openalex.org/W2914852339","https://openalex.org/W2922549387","https://openalex.org/W2945989667","https://openalex.org/W2946173685","https://openalex.org/W2946626387","https://openalex.org/W2952128461","https://openalex.org/W2961329072","https://openalex.org/W2969476445","https://openalex.org/W2972577058","https://openalex.org/W2994706149","https://openalex.org/W2999905431","https://openalex.org/W3006341146","https://openalex.org/W3012280517","https://openalex.org/W3095897269","https://openalex.org/W3128467622","https://openalex.org/W3158971645","https://openalex.org/W3185660813","https://openalex.org/W3192532295","https://openalex.org/W4205525628","https://openalex.org/W4205904171","https://openalex.org/W4210823617","https://openalex.org/W4310564850"],"related_works":["https://openalex.org/W4280602684","https://openalex.org/W4310092953","https://openalex.org/W2227393071","https://openalex.org/W4402326599","https://openalex.org/W1995350144","https://openalex.org/W2082102603","https://openalex.org/W2166141227","https://openalex.org/W3133980636","https://openalex.org/W2950264897","https://openalex.org/W3132065130"],"abstract_inverted_index":{"The":[0,28],"genetic":[1,83],"etiology":[2,211],"of":[3,15,30,99],"brain":[4],"disorders":[5],"is":[6,40,218],"highly":[7],"heterogeneous,":[8],"characterized":[9],"by":[10,119],"abnormalities":[11],"in":[12,82,167,170,181,194,227],"the":[13,16,86,97,117,200],"development":[14],"central":[17],"nervous":[18,186],"system":[19,187],"that":[20,78,107,155],"lead":[21],"to":[22,53,95,111,174,204,224],"diminished":[23],"physical":[24],"or":[25,64],"intellectual":[26],"capabilities.":[27],"process":[29],"determining":[31],"which":[32],"gene":[33,138,229],"drives":[34],"disease,":[35],"known":[36],"as":[37],"\"gene":[38],"prioritization,\"":[39],"not":[41],"entirely":[42],"understood.":[43],"Genome-wide":[44],"searches":[45],"for":[46,137],"gene-disease":[47],"associations":[48],"are":[49],"still":[50],"underdeveloped":[51],"due":[52],"reliance":[54],"on":[55,74,101,116],"previous":[56,175],"discoveries":[57],"and":[58,122,149,177,197],"evidence":[59],"sources":[60,125],"with":[61,146,184],"false":[62],"positive":[63],"negative":[65],"relations.":[66],"This":[67],"paper":[68],"introduces":[69],"DeepGenePrior,":[70],"a":[71,93,164,178,209],"model":[72],"based":[73,115],"deep":[75],"neural":[76],"networks":[77],"prioritizes":[79],"candidate":[80,113,233],"genes":[81,100,154,172,182,202],"diseases.":[84,103],"Using":[85],"well-studied":[87],"Variational":[88],"AutoEncoder":[89],"(VAE),":[90],"we":[91,152,190],"developed":[92],"score":[94],"measure":[96],"impact":[98],"target":[102],"Unlike":[104],"other":[105],"methods":[106],"use":[108],"prior":[109],"data":[110,124],"select":[112],"genes,":[114],"\"guilt":[118],"association\"":[120],"principle":[121],"auxiliary":[123],"like":[126],"protein":[127],"networks,":[128],"our":[129],"study":[130],"exclusively":[131],"employs":[132],"copy":[133],"number":[134],"variants":[135],"(CNVs)":[136],"prioritization.":[139],"By":[140],"analyzing":[141],"CNVs":[142],"from":[143,159],"74,811":[144],"individuals":[145],"autism,":[147],"schizophrenia,":[148],"developmental":[150],"delay,":[151],"identified":[153,191],"best":[156],"distinguish":[157],"cases":[158],"controls.":[160],"Our":[161],"findings":[162],"indicate":[163],"12%":[165],"increase":[166,180],"fold":[168],"enrichment":[169],"brain-expressed":[171],"compared":[173],"studies":[176,231],"15%":[179],"associated":[183],"mouse":[185],"phenotypes.":[188],"Furthermore,":[189],"common":[192,210],"deletions":[193],"ZDHHC8,":[195],"DGCR5,":[196],"CATG00000022283":[198],"among":[199,212],"top":[201],"related":[203],"all":[205],"three":[206],"disorders,":[207],"suggesting":[208],"these":[213],"clinically":[214],"distinct":[215],"conditions.":[216],"DeepGenePrior":[217],"publicly":[219],"available":[220],"online":[221],"at":[222],"http://git.dml.ir/z_rahaie/DGP":[223],"address":[225],"obstacles":[226],"existing":[228],"prioritization":[230],"identifying":[232],"genes.":[234]},"counts_by_year":[{"year":2024,"cited_by_count":2},{"year":2023,"cited_by_count":1}],"updated_date":"2026-04-10T15:06:20.359241","created_date":"2025-10-10T00:00:00"}