{"id":"https://openalex.org/W4280550095","doi":"https://doi.org/10.1371/journal.pcbi.1010011","title":"Annotating functional effects of non-coding variants in neuropsychiatric cell types by deep transfer learning","display_name":"Annotating functional effects of non-coding variants in neuropsychiatric cell types by deep transfer learning","publication_year":2022,"publication_date":"2022-05-16","ids":{"openalex":"https://openalex.org/W4280550095","doi":"https://doi.org/10.1371/journal.pcbi.1010011","pmid":"https://pubmed.ncbi.nlm.nih.gov/35576194"},"language":"en","primary_location":{"id":"doi:10.1371/journal.pcbi.1010011","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pcbi.1010011","pdf_url":"https://journals.plos.org/ploscompbiol/article/file?id=10.1371/journal.pcbi.1010011&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.1010011&type=printable","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5037445285","display_name":"Ben Lai","orcid":"https://orcid.org/0000-0002-4201-6786"},"institutions":[{"id":"https://openalex.org/I160992636","display_name":"Toyota Technological Institute at Chicago","ror":"https://ror.org/02sn5gb64","country_code":"US","type":"education","lineage":["https://openalex.org/I160992636"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Boqiao Lai","raw_affiliation_strings":["Toyota Technological Institute at Chicago, Chicago, Illinois, United States of America"],"affiliations":[{"raw_affiliation_string":"Toyota Technological Institute at Chicago, Chicago, Illinois, United States of America","institution_ids":["https://openalex.org/I160992636"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5088726237","display_name":"Sheng Qian","orcid":"https://orcid.org/0000-0003-4337-8532"},"institutions":[{"id":"https://openalex.org/I40347166","display_name":"University of Chicago","ror":"https://ror.org/024mw5h28","country_code":"US","type":"education","lineage":["https://openalex.org/I40347166"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Sheng Qian","raw_affiliation_strings":["Department of Human Genetics, University of Chicago, Chicago, Illinois, United States of America"],"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, University of Chicago, Chicago, Illinois, United States of America","institution_ids":["https://openalex.org/I40347166"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111159208","display_name":"Hanwei Zhang","orcid":null},"institutions":[{"id":"https://openalex.org/I1339509835","display_name":"NorthShore University HealthSystem","ror":"https://ror.org/04tpp9d61","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1339509835"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Hanwei Zhang","raw_affiliation_strings":["Center for Psychiatric Genetics, NorthShore University HealthSystem, Evanston, Illinois, United States of America"],"affiliations":[{"raw_affiliation_string":"Center for Psychiatric Genetics, NorthShore University HealthSystem, Evanston, Illinois, United States of America","institution_ids":["https://openalex.org/I1339509835"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100633931","display_name":"Siwei Zhang","orcid":"https://orcid.org/0000-0002-1646-063X"},"institutions":[{"id":"https://openalex.org/I1339509835","display_name":"NorthShore University HealthSystem","ror":"https://ror.org/04tpp9d61","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1339509835"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Siwei Zhang","raw_affiliation_strings":["Center for Psychiatric Genetics, NorthShore University HealthSystem, Evanston, Illinois, United States of America"],"affiliations":[{"raw_affiliation_string":"Center for Psychiatric Genetics, NorthShore University HealthSystem, Evanston, Illinois, United States of America","institution_ids":["https://openalex.org/I1339509835"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045372498","display_name":"Alena Kozlova","orcid":"https://orcid.org/0000-0002-7298-7460"},"institutions":[{"id":"https://openalex.org/I1339509835","display_name":"NorthShore University HealthSystem","ror":"https://ror.org/04tpp9d61","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1339509835"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Alena Kozlova","raw_affiliation_strings":["Center for Psychiatric Genetics, NorthShore University HealthSystem, Evanston, Illinois, United States of America"],"affiliations":[{"raw_affiliation_string":"Center for Psychiatric Genetics, NorthShore University HealthSystem, Evanston, Illinois, United States of America","institution_ids":["https://openalex.org/I1339509835"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020329452","display_name":"Jubao Duan","orcid":"https://orcid.org/0000-0002-7215-3220"},"institutions":[{"id":"https://openalex.org/I1339509835","display_name":"NorthShore University HealthSystem","ror":"https://ror.org/04tpp9d61","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1339509835"]},{"id":"https://openalex.org/I40347166","display_name":"University of Chicago","ror":"https://ror.org/024mw5h28","country_code":"US","type":"education","lineage":["https://openalex.org/I40347166"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jubao Duan","raw_affiliation_strings":["Center for Psychiatric Genetics, NorthShore University HealthSystem, Evanston, Illinois, United States of America","Department of Psychiatry and Behavioral Neuroscience, University of Chicago, Chicago, Illinois, United States of America"],"affiliations":[{"raw_affiliation_string":"Center for Psychiatric Genetics, NorthShore University HealthSystem, Evanston, Illinois, United States of America","institution_ids":["https://openalex.org/I1339509835"]},{"raw_affiliation_string":"Department of Psychiatry and Behavioral Neuroscience, University of Chicago, Chicago, Illinois, United States of America","institution_ids":["https://openalex.org/I40347166"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5019398608","display_name":"Jinbo Xu","orcid":"https://orcid.org/0000-0001-7111-4839"},"institutions":[{"id":"https://openalex.org/I160992636","display_name":"Toyota Technological Institute at Chicago","ror":"https://ror.org/02sn5gb64","country_code":"US","type":"education","lineage":["https://openalex.org/I160992636"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Jinbo Xu","raw_affiliation_strings":["Toyota Technological Institute at Chicago, Chicago, Illinois, United States of America"],"affiliations":[{"raw_affiliation_string":"Toyota Technological Institute at Chicago, Chicago, Illinois, United States of America","institution_ids":["https://openalex.org/I160992636"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5064795764","display_name":"Xin He","orcid":"https://orcid.org/0000-0001-9011-5212"},"institutions":[{"id":"https://openalex.org/I40347166","display_name":"University of Chicago","ror":"https://ror.org/024mw5h28","country_code":"US","type":"education","lineage":["https://openalex.org/I40347166"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Xin He","raw_affiliation_strings":["Department of Human Genetics, University of Chicago, Chicago, Illinois, United States of America"],"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, University of Chicago, Chicago, Illinois, United States of America","institution_ids":["https://openalex.org/I40347166"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":8,"corresponding_author_ids":["https://openalex.org/A5019398608","https://openalex.org/A5064795764"],"corresponding_institution_ids":["https://openalex.org/I160992636","https://openalex.org/I40347166"],"apc_list":{"value":2655,"currency":"USD","value_usd":2655},"apc_paid":{"value":2655,"currency":"USD","value_usd":2655},"fwci":2.0673,"has_fulltext":true,"cited_by_count":11,"citation_normalized_percentile":{"value":0.8726787,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":94,"max":98},"biblio":{"volume":"18","issue":"5","first_page":"e1010011","last_page":"e1010011"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9990000128746033,"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/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9990000128746033,"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/T10269","display_name":"Epigenetics and DNA Methylation","score":0.9980999827384949,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9980000257492065,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/genome-wide-association-study","display_name":"Genome-wide association study","score":0.6523236036300659},{"id":"https://openalex.org/keywords/encode","display_name":"ENCODE","score":0.5720717906951904},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.5476891994476318},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.5104430913925171},{"id":"https://openalex.org/keywords/annotation","display_name":"Annotation","score":0.5045884847640991},{"id":"https://openalex.org/keywords/transfer-of-learning","display_name":"Transfer of learning","score":0.4949309229850769},{"id":"https://openalex.org/keywords/deep-learning","display_name":"Deep learning","score":0.4749322533607483},{"id":"https://openalex.org/keywords/context","display_name":"Context (archaeology)","score":0.47244006395339966},{"id":"https://openalex.org/keywords/convolutional-neural-network","display_name":"Convolutional neural network","score":0.4678277373313904},{"id":"https://openalex.org/keywords/epigenomics","display_name":"Epigenomics","score":0.45587438344955444},{"id":"https://openalex.org/keywords/expression-quantitative-trait-loci","display_name":"Expression quantitative trait loci","score":0.43745148181915283},{"id":"https://openalex.org/keywords/artificial-intelligence","display_name":"Artificial intelligence","score":0.4181123375892639},{"id":"https://openalex.org/keywords/machine-learning","display_name":"Machine learning","score":0.3731340765953064},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.34924161434173584},{"id":"https://openalex.org/keywords/dna-methylation","display_name":"DNA methylation","score":0.29314693808555603},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphism","display_name":"Single-nucleotide polymorphism","score":0.24940136075019836},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.20704901218414307},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.20203512907028198}],"concepts":[{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.6523236036300659},{"id":"https://openalex.org/C66746571","wikidata":"https://www.wikidata.org/wiki/Q1134833","display_name":"ENCODE","level":3,"score":0.5720717906951904},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.5476891994476318},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5104430913925171},{"id":"https://openalex.org/C2776321320","wikidata":"https://www.wikidata.org/wiki/Q857525","display_name":"Annotation","level":2,"score":0.5045884847640991},{"id":"https://openalex.org/C150899416","wikidata":"https://www.wikidata.org/wiki/Q1820378","display_name":"Transfer of learning","level":2,"score":0.4949309229850769},{"id":"https://openalex.org/C108583219","wikidata":"https://www.wikidata.org/wiki/Q197536","display_name":"Deep learning","level":2,"score":0.4749322533607483},{"id":"https://openalex.org/C2779343474","wikidata":"https://www.wikidata.org/wiki/Q3109175","display_name":"Context (archaeology)","level":2,"score":0.47244006395339966},{"id":"https://openalex.org/C81363708","wikidata":"https://www.wikidata.org/wiki/Q17084460","display_name":"Convolutional neural network","level":2,"score":0.4678277373313904},{"id":"https://openalex.org/C121912465","wikidata":"https://www.wikidata.org/wiki/Q3589153","display_name":"Epigenomics","level":5,"score":0.45587438344955444},{"id":"https://openalex.org/C168393362","wikidata":"https://www.wikidata.org/wiki/Q5421706","display_name":"Expression quantitative trait loci","level":5,"score":0.43745148181915283},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.4181123375892639},{"id":"https://openalex.org/C119857082","wikidata":"https://www.wikidata.org/wiki/Q2539","display_name":"Machine learning","level":1,"score":0.3731340765953064},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.34924161434173584},{"id":"https://openalex.org/C190727270","wikidata":"https://www.wikidata.org/wiki/Q874745","display_name":"DNA methylation","level":4,"score":0.29314693808555603},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.24940136075019836},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.20704901218414307},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.20203512907028198},{"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/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.0},{"id":"https://openalex.org/C151730666","wikidata":"https://www.wikidata.org/wiki/Q7205","display_name":"Paleontology","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000069550","descriptor_name":"Machine Learning","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000069550","descriptor_name":"Machine Learning","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000069550","descriptor_name":"Machine Learning","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000069550","descriptor_name":"Machine Learning","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000069550","descriptor_name":"Machine Learning","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000069550","descriptor_name":"Machine Learning","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":"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":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D057890","descriptor_name":"Epigenomics","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D057890","descriptor_name":"Epigenomics","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D057890","descriptor_name":"Epigenomics","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D057890","descriptor_name":"Epigenomics","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D057890","descriptor_name":"Epigenomics","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D057890","descriptor_name":"Epigenomics","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false}],"locations_count":5,"locations":[{"id":"doi:10.1371/journal.pcbi.1010011","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pcbi.1010011","pdf_url":"https://journals.plos.org/ploscompbiol/article/file?id=10.1371/journal.pcbi.1010011&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:35576194","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/35576194","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:uchicago.tind.io:6316","is_oa":true,"landing_page_url":"http://knowledge.uchicago.edu/record/6316","pdf_url":null,"source":{"id":"https://openalex.org/S4306402460","display_name":"Knowledge@UChicago (University of Chicago)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I40347166","host_organization_name":"University of Chicago","host_organization_lineage":["https://openalex.org/I40347166"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"http://knowledge.uchicago.edu/record/6316","raw_type":"Text"},{"id":"pmh:oai:doaj.org/article:6b44a54df1cc4e96b399c22c2124839f","is_oa":true,"landing_page_url":"https://doaj.org/article/6b44a54df1cc4e96b399c22c2124839f","pdf_url":null,"source":{"id":"https://openalex.org/S112646816","display_name":"SHILAP Revista de lepidopterolog\u00eda","issn_l":"0300-5267","issn":["0300-5267","2340-4078"],"is_oa":true,"is_in_doaj":true,"is_core":false,"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"PLoS Computational Biology, Vol 18, Iss 5, p e1010011 (2022)","raw_type":"article"},{"id":"pmh:oai:pubmedcentral.nih.gov:9135341","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/9135341","pdf_url":null,"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.1010011","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pcbi.1010011","pdf_url":"https://journals.plos.org/ploscompbiol/article/file?id=10.1371/journal.pcbi.1010011&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":[{"display_name":"Partnerships for the goals","id":"https://metadata.un.org/sdg/17","score":0.4300000071525574}],"awards":[{"id":"https://openalex.org/G105681295","display_name":null,"funder_award_id":"R01MH116281","funder_id":"https://openalex.org/F4320337346","funder_display_name":"National Institute of Mental Health"},{"id":"https://openalex.org/G2784261602","display_name":null,"funder_award_id":"R01MH110531","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G4285115751","display_name":null,"funder_award_id":"R01MH116281","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G5413263592","display_name":null,"funder_award_id":"R01MH110531","funder_id":"https://openalex.org/F4320337346","funder_display_name":"National Institute of Mental Health"},{"id":"https://openalex.org/G6177119305","display_name":null,"funder_award_id":"MH116281","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G7060176192","display_name":null,"funder_award_id":"R01GM089753","funder_id":"https://openalex.org/F4320337354","funder_display_name":"National Institute of General Medical Sciences"}],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337346","display_name":"National Institute of Mental Health","ror":"https://ror.org/04xeg9z08"},{"id":"https://openalex.org/F4320337354","display_name":"National Institute of General Medical Sciences","ror":"https://ror.org/04q48ey07"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4280550095.pdf","grobid_xml":"https://content.openalex.org/works/W4280550095.grobid-xml"},"referenced_works_count":89,"referenced_works":["https://openalex.org/W370702354","https://openalex.org/W1019830208","https://openalex.org/W1665214252","https://openalex.org/W1982881824","https://openalex.org/W1984068087","https://openalex.org/W1984827465","https://openalex.org/W1988581590","https://openalex.org/W1997151052","https://openalex.org/W2005078450","https://openalex.org/W2018189081","https://openalex.org/W2033169664","https://openalex.org/W2038473742","https://openalex.org/W2052906955","https://openalex.org/W2053433605","https://openalex.org/W2058549086","https://openalex.org/W2076154138","https://openalex.org/W2078059415","https://openalex.org/W2082076520","https://openalex.org/W2084160423","https://openalex.org/W2091254888","https://openalex.org/W2101357408","https://openalex.org/W2103777723","https://openalex.org/W2104549677","https://openalex.org/W2125987139","https://openalex.org/W2134868027","https://openalex.org/W2137265280","https://openalex.org/W2147218825","https://openalex.org/W2152325859","https://openalex.org/W2164507097","https://openalex.org/W2194775991","https://openalex.org/W2198606573","https://openalex.org/W2209057530","https://openalex.org/W2212528563","https://openalex.org/W2256016639","https://openalex.org/W2259938310","https://openalex.org/W2330303612","https://openalex.org/W2336509392","https://openalex.org/W2338148720","https://openalex.org/W2343029969","https://openalex.org/W2345512687","https://openalex.org/W2400221198","https://openalex.org/W2473930607","https://openalex.org/W2526546796","https://openalex.org/W2538916701","https://openalex.org/W2599110791","https://openalex.org/W2744574689","https://openalex.org/W2761275051","https://openalex.org/W2777388159","https://openalex.org/W2782160930","https://openalex.org/W2782326402","https://openalex.org/W2795735651","https://openalex.org/W2796184217","https://openalex.org/W2810164974","https://openalex.org/W2823877255","https://openalex.org/W2837542075","https://openalex.org/W2882992973","https://openalex.org/W2886367104","https://openalex.org/W2887280559","https://openalex.org/W2889731276","https://openalex.org/W2895322073","https://openalex.org/W2903631495","https://openalex.org/W2904763455","https://openalex.org/W2905452503","https://openalex.org/W2912486242","https://openalex.org/W2935703330","https://openalex.org/W2936995161","https://openalex.org/W2939676330","https://openalex.org/W2945239551","https://openalex.org/W2947187332","https://openalex.org/W2949867299","https://openalex.org/W2952439736","https://openalex.org/W2960370523","https://openalex.org/W2964536524","https://openalex.org/W2971759641","https://openalex.org/W2971969289","https://openalex.org/W2974103075","https://openalex.org/W2977079874","https://openalex.org/W2980980552","https://openalex.org/W2982552606","https://openalex.org/W2995175313","https://openalex.org/W3000751841","https://openalex.org/W3029661147","https://openalex.org/W3036197410","https://openalex.org/W3046891017","https://openalex.org/W3090713048","https://openalex.org/W3099848476","https://openalex.org/W3105951520","https://openalex.org/W3121486818","https://openalex.org/W6691995666"],"related_works":["https://openalex.org/W104925310","https://openalex.org/W2464196154","https://openalex.org/W1995613491","https://openalex.org/W2951751247","https://openalex.org/W2143143063","https://openalex.org/W4384126845","https://openalex.org/W2112543488","https://openalex.org/W4323567910","https://openalex.org/W3098850595","https://openalex.org/W2980501751"],"abstract_inverted_index":{"Genomewide":[0],"association":[1],"studies":[2],"(GWAS)":[3],"have":[4,36,67],"identified":[5],"a":[6,112],"large":[7,71,113],"number":[8],"of":[9,43,93,115,201,213],"loci":[10,22],"associated":[11],"with":[12,175],"neuropsychiatric":[13,78],"traits,":[14],"however,":[15],"understanding":[16],"the":[17,142,189,206,210],"molecular":[18],"mechanisms":[19],"underlying":[20],"these":[21,85],"remains":[23],"difficult.":[24],"To":[25,106],"help":[26],"prioritize":[27],"causal":[28],"variants":[29,160,204],"and":[30,96,119,169,188,209],"interpret":[31],"their":[32],"functions,":[33],"computational":[34],"methods":[35],"been":[37,68],"developed":[38],"to":[39,49,98,140,219],"predict":[40,57],"regulatory":[41,58],"effects":[42],"non-coding":[44],"variants.":[45],"An":[46],"emerging":[47],"approach":[48],"variant":[50,100,163],"annotation":[51,164],"is":[52,89,151],"deep":[53,121],"learning":[54],"models":[55,66],"that":[56,149],"functions":[59,101],"from":[60,136],"DNA":[61,203],"sequences":[62],"alone.":[63],"While":[64],"such":[65,75,103,127,166],"trained":[69,120],"on":[70],"publicly":[72],"available":[73],"dataset":[74],"as":[76,167],"ENCODE,":[77],"trait-related":[79],"cell":[80,222],"types":[81],"are":[82],"under-represented":[83],"in":[84,102,154,205],"datasets,":[86],"thus":[87],"there":[88],"an":[90],"urgent":[91],"need":[92],"better":[94,153],"tools":[95,165],"resources":[97],"annotate":[99],"cellular":[104],"contexts.":[105],"fill":[107],"this":[108],"gap,":[109],"we":[110,178],"collected":[111],"collection":[114],"neurodevelopment-related":[116],"cell/tissue":[117],"types,":[118],"Convolutional":[122],"Neural":[123],"Networks":[124],"(ResNet)":[125],"using":[126],"data.":[128],"Furthermore,":[129],"our":[130],"model,":[131],"called":[132],"MetaChrom,":[133],"borrows":[134],"information":[135],"public":[137],"epigenomic":[138],"consortium":[139],"improve":[141],"accuracy":[143],"via":[144],"transfer":[145],"learning.":[146],"We":[147],"show":[148],"MetaChrom":[150,176,197,214],"substantially":[152],"predicting":[155],"experimentally":[156],"determined":[157],"chromatin":[158],"accessibility":[159],"than":[161],"popular":[162],"CADD":[168],"delta-SVM.":[170],"By":[171],"combining":[172],"GWAS":[173],"data":[174],"predictions,":[177],"prioritized":[179],"31":[180],"SNPs":[181],"for":[182],"Schizophrenia,":[183],"suggesting":[184],"potential":[185],"risk":[186],"genes":[187],"biological":[190],"contexts":[191],"where":[192],"they":[193],"act.":[194],"In":[195],"summary,":[196],"provides":[198],"functional":[199],"annotations":[200],"any":[202],"neuro-development":[207],"context":[208],"general":[211],"method":[212],"can":[215],"also":[216],"be":[217],"extended":[218],"other":[220],"disease-related":[221],"or":[223],"tissue":[224],"types.":[225]},"counts_by_year":[{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":2},{"year":2023,"cited_by_count":4},{"year":2022,"cited_by_count":3}],"updated_date":"2026-04-10T15:06:20.359241","created_date":"2025-10-10T00:00:00"}