{"id":"https://openalex.org/W4415695867","doi":"https://doi.org/10.1093/bib/bbaf565","title":"BrainGeneBot: a framework for variant prioritization and generative pretrained transformer-informed interpretation across polygenic risk score studies","display_name":"BrainGeneBot: a framework for variant prioritization and generative pretrained transformer-informed interpretation across polygenic risk score studies","publication_year":2025,"publication_date":"2025-08-31","ids":{"openalex":"https://openalex.org/W4415695867","doi":"https://doi.org/10.1093/bib/bbaf565","pmid":"https://pubmed.ncbi.nlm.nih.gov/41148224"},"language":"en","primary_location":{"id":"doi:10.1093/bib/bbaf565","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bib/bbaf565","pdf_url":"https://academic.oup.com/bib/article-pdf/26/5/bbaf565/65004858/bbaf565.pdf","source":{"id":"https://openalex.org/S91767247","display_name":"Briefings in Bioinformatics","issn_l":"1467-5463","issn":["1467-5463","1477-4054"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Briefings in Bioinformatics","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://academic.oup.com/bib/article-pdf/26/5/bbaf565/65004858/bbaf565.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5025742027","display_name":"Gang Qu","orcid":"https://orcid.org/0000-0003-2681-0880"},"institutions":[{"id":"https://openalex.org/I4210159031","display_name":"The University of Texas Health Science Center","ror":"https://ror.org/05cwbxa29","country_code":"US","type":"education","lineage":["https://openalex.org/I4210159031"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Gang Qu","raw_affiliation_strings":["Center for Precision Health , McWilliams School of Biomedical Informatics, The University of Texas Health Science Center at Houston 7000 Fannin Street, Suite 600, Texas Medical Center, Houston, Harris County, TX 77030,"],"raw_orcid":"https://orcid.org/0000-0003-2681-0880","affiliations":[{"raw_affiliation_string":"Center for Precision Health , McWilliams School of Biomedical Informatics, The University of Texas Health Science Center at Houston 7000 Fannin Street, Suite 600, Texas Medical Center, Houston, Harris County, TX 77030,","institution_ids":["https://openalex.org/I4210159031"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005021100","display_name":"Nitesh Enduru","orcid":"https://orcid.org/0000-0002-0255-706X"},"institutions":[{"id":"https://openalex.org/I4210159031","display_name":"The University of Texas Health Science Center","ror":"https://ror.org/05cwbxa29","country_code":"US","type":"education","lineage":["https://openalex.org/I4210159031"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Nitesh Enduru","raw_affiliation_strings":["Center for Precision Health , McWilliams School of Biomedical Informatics, The University of Texas Health Science Center at Houston 7000 Fannin Street, Suite 600, Texas Medical Center, Houston, Harris County, TX 77030,"],"raw_orcid":"https://orcid.org/0000-0002-0255-706X","affiliations":[{"raw_affiliation_string":"Center for Precision Health , McWilliams School of Biomedical Informatics, The University of Texas Health Science Center at Houston 7000 Fannin Street, Suite 600, Texas Medical Center, Houston, Harris County, TX 77030,","institution_ids":["https://openalex.org/I4210159031"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Xinyi Liu","orcid":"https://orcid.org/0000-0001-6862-1004"},"institutions":[{"id":"https://openalex.org/I4210159031","display_name":"The University of Texas Health Science Center","ror":"https://ror.org/05cwbxa29","country_code":"US","type":"education","lineage":["https://openalex.org/I4210159031"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Xinyi Liu","raw_affiliation_strings":["Center for Precision Health , McWilliams School of Biomedical Informatics, The University of Texas Health Science Center at Houston 7000 Fannin Street, Suite 600, Texas Medical Center, Houston, Harris County, TX 77030,"],"raw_orcid":"https://orcid.org/0000-0001-6862-1004","affiliations":[{"raw_affiliation_string":"Center for Precision Health , McWilliams School of Biomedical Informatics, The University of Texas Health Science Center at Houston 7000 Fannin Street, Suite 600, Texas Medical Center, Houston, Harris County, TX 77030,","institution_ids":["https://openalex.org/I4210159031"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055458864","display_name":"Xiaoqian Jiang","orcid":"https://orcid.org/0000-0001-9933-2205"},"institutions":[{"id":"https://openalex.org/I4210159031","display_name":"The University of Texas Health Science Center","ror":"https://ror.org/05cwbxa29","country_code":"US","type":"education","lineage":["https://openalex.org/I4210159031"]},{"id":"https://openalex.org/I919571938","display_name":"The University of Texas Health Science Center at Houston","ror":"https://ror.org/03gds6c39","country_code":"US","type":"education","lineage":["https://openalex.org/I919571938"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Xiaoqian Jiang","raw_affiliation_strings":["Department of Health Data Science and Artificial Intelligence , McWilliams School of Biomedical Informatics, The University of Texas Health Science Center at Houston 7000 Fannin Street, Suite 600, Texas Medical Center, Houston, Harris County, TX 77030,"],"raw_orcid":"https://orcid.org/0000-0001-9933-2205","affiliations":[{"raw_affiliation_string":"Department of Health Data Science and Artificial Intelligence , McWilliams School of Biomedical Informatics, The University of Texas Health Science Center at Houston 7000 Fannin Street, Suite 600, Texas Medical Center, Houston, Harris County, TX 77030,","institution_ids":["https://openalex.org/I4210159031","https://openalex.org/I919571938"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5006688612","display_name":"Zhongming Zhao","orcid":"https://orcid.org/0000-0002-3477-0914"},"institutions":[{"id":"https://openalex.org/I4210159031","display_name":"The University of Texas Health Science Center","ror":"https://ror.org/05cwbxa29","country_code":"US","type":"education","lineage":["https://openalex.org/I4210159031"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Zhongming Zhao","raw_affiliation_strings":["Center for Precision Health , McWilliams School of Biomedical Informatics, The University of Texas Health Science Center at Houston 7000 Fannin Street, Suite 600, Texas Medical Center, Houston, Harris County, TX 77030,"],"raw_orcid":"https://orcid.org/0000-0002-3477-0914","affiliations":[{"raw_affiliation_string":"Center for Precision Health , McWilliams School of Biomedical Informatics, The University of Texas Health Science Center at Houston 7000 Fannin Street, Suite 600, Texas Medical Center, Houston, Harris County, TX 77030,","institution_ids":["https://openalex.org/I4210159031"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":5,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":4011,"currency":"USD","value_usd":4011},"apc_paid":{"value":4011,"currency":"USD","value_usd":4011},"fwci":1.2846,"has_fulltext":true,"cited_by_count":1,"citation_normalized_percentile":{"value":0.84483745,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":95,"max":98},"biblio":{"volume":"26","issue":"5","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9901999831199646,"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":0.9901999831199646,"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":0.003599999938160181,"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/T10887","display_name":"Bioinformatics and Genomic Networks","score":0.002199999988079071,"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/interpretability","display_name":"Interpretability","score":0.8025000095367432},{"id":"https://openalex.org/keywords/generalizability-theory","display_name":"Generalizability theory","score":0.5051000118255615},{"id":"https://openalex.org/keywords/genome-wide-association-study","display_name":"Genome-wide association study","score":0.49410000443458557},{"id":"https://openalex.org/keywords/precision-medicine","display_name":"Precision medicine","score":0.41429999470710754},{"id":"https://openalex.org/keywords/population","display_name":"Population","score":0.4068000018596649},{"id":"https://openalex.org/keywords/prioritization","display_name":"Prioritization","score":0.38600000739097595},{"id":"https://openalex.org/keywords/bayes-theorem","display_name":"Bayes' theorem","score":0.3693999946117401},{"id":"https://openalex.org/keywords/set","display_name":"Set (abstract data type)","score":0.36910000443458557},{"id":"https://openalex.org/keywords/generative-grammar","display_name":"Generative grammar","score":0.359499990940094}],"concepts":[{"id":"https://openalex.org/C2781067378","wikidata":"https://www.wikidata.org/wiki/Q17027399","display_name":"Interpretability","level":2,"score":0.8025000095367432},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.6929000020027161},{"id":"https://openalex.org/C119857082","wikidata":"https://www.wikidata.org/wiki/Q2539","display_name":"Machine learning","level":1,"score":0.6583999991416931},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.5856000185012817},{"id":"https://openalex.org/C27158222","wikidata":"https://www.wikidata.org/wiki/Q5532422","display_name":"Generalizability theory","level":2,"score":0.5051000118255615},{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.49410000443458557},{"id":"https://openalex.org/C163763905","wikidata":"https://www.wikidata.org/wiki/Q17075943","display_name":"Precision medicine","level":2,"score":0.41429999470710754},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.4068000018596649},{"id":"https://openalex.org/C2777615720","wikidata":"https://www.wikidata.org/wiki/Q11888847","display_name":"Prioritization","level":2,"score":0.38600000739097595},{"id":"https://openalex.org/C207201462","wikidata":"https://www.wikidata.org/wiki/Q182505","display_name":"Bayes' theorem","level":3,"score":0.3693999946117401},{"id":"https://openalex.org/C177264268","wikidata":"https://www.wikidata.org/wiki/Q1514741","display_name":"Set (abstract data type)","level":2,"score":0.36910000443458557},{"id":"https://openalex.org/C39890363","wikidata":"https://www.wikidata.org/wiki/Q36108","display_name":"Generative grammar","level":2,"score":0.359499990940094},{"id":"https://openalex.org/C22019652","wikidata":"https://www.wikidata.org/wiki/Q331309","display_name":"Overfitting","level":3,"score":0.3452000021934509},{"id":"https://openalex.org/C97931131","wikidata":"https://www.wikidata.org/wiki/Q5282087","display_name":"Discriminative model","level":2,"score":0.34470000863075256},{"id":"https://openalex.org/C207609745","wikidata":"https://www.wikidata.org/wiki/Q4944086","display_name":"Bootstrapping (finance)","level":2,"score":0.3409000039100647},{"id":"https://openalex.org/C186413461","wikidata":"https://www.wikidata.org/wiki/Q744727","display_name":"Genetic association","level":5,"score":0.34049999713897705},{"id":"https://openalex.org/C94124525","wikidata":"https://www.wikidata.org/wiki/Q912550","display_name":"Categorization","level":2,"score":0.334199994802475},{"id":"https://openalex.org/C167966045","wikidata":"https://www.wikidata.org/wiki/Q5532625","display_name":"Generative model","level":3,"score":0.3303000032901764},{"id":"https://openalex.org/C58041806","wikidata":"https://www.wikidata.org/wiki/Q1660484","display_name":"Imputation (statistics)","level":3,"score":0.3296000063419342},{"id":"https://openalex.org/C124101348","wikidata":"https://www.wikidata.org/wiki/Q172491","display_name":"Data mining","level":1,"score":0.30230000615119934},{"id":"https://openalex.org/C189430467","wikidata":"https://www.wikidata.org/wiki/Q7293293","display_name":"Ranking (information retrieval)","level":2,"score":0.30160000920295715},{"id":"https://openalex.org/C107673813","wikidata":"https://www.wikidata.org/wiki/Q812534","display_name":"Bayesian probability","level":2,"score":0.3012999892234802},{"id":"https://openalex.org/C45942800","wikidata":"https://www.wikidata.org/wiki/Q245652","display_name":"Ensemble learning","level":2,"score":0.2962999939918518},{"id":"https://openalex.org/C32220436","wikidata":"https://www.wikidata.org/wiki/Q2072214","display_name":"Personalized medicine","level":2,"score":0.2822999954223633},{"id":"https://openalex.org/C2776401178","wikidata":"https://www.wikidata.org/wiki/Q12050496","display_name":"Feature (linguistics)","level":2,"score":0.28139999508857727},{"id":"https://openalex.org/C2779901538","wikidata":"https://www.wikidata.org/wiki/Q6816584","display_name":"Mendelian randomization","level":5,"score":0.2687999904155731},{"id":"https://openalex.org/C189206191","wikidata":"https://www.wikidata.org/wiki/Q222046","display_name":"Genomics","level":4,"score":0.2687000036239624},{"id":"https://openalex.org/C97256817","wikidata":"https://www.wikidata.org/wiki/Q1462316","display_name":"Spurious relationship","level":2,"score":0.26829999685287476},{"id":"https://openalex.org/C136389625","wikidata":"https://www.wikidata.org/wiki/Q334384","display_name":"Supervised learning","level":3,"score":0.2662999927997589},{"id":"https://openalex.org/C165064840","wikidata":"https://www.wikidata.org/wiki/Q1321061","display_name":"Matching (statistics)","level":2,"score":0.259799987077713}],"mesh":[{"descriptor_ui":"D000096442","descriptor_name":"Genetic Risk Score","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000096442","descriptor_name":"Genetic Risk Score","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000096442","descriptor_name":"Genetic Risk Score","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000096442","descriptor_name":"Genetic Risk Score","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000096442","descriptor_name":"Genetic Risk Score","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000544","descriptor_name":"Alzheimer Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000544","descriptor_name":"Alzheimer Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000544","descriptor_name":"Alzheimer Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000544","descriptor_name":"Alzheimer Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000544","descriptor_name":"Alzheimer Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","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":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020412","descriptor_name":"Multifactorial Inheritance","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020412","descriptor_name":"Multifactorial Inheritance","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020412","descriptor_name":"Multifactorial Inheritance","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020412","descriptor_name":"Multifactorial Inheritance","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020412","descriptor_name":"Multifactorial Inheritance","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"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}],"locations_count":4,"locations":[{"id":"doi:10.1093/bib/bbaf565","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bib/bbaf565","pdf_url":"https://academic.oup.com/bib/article-pdf/26/5/bbaf565/65004858/bbaf565.pdf","source":{"id":"https://openalex.org/S91767247","display_name":"Briefings in Bioinformatics","issn_l":"1467-5463","issn":["1467-5463","1477-4054"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Briefings in Bioinformatics","raw_type":"journal-article"},{"id":"pmid:41148224","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/41148224","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":"Briefings in bioinformatics","raw_type":null},{"id":"pmh:oai:digitalcommons.library.tmc.edu:uthshis_docs-1717","is_oa":false,"landing_page_url":"https://digitalcommons.library.tmc.edu/uthshis_docs/731","pdf_url":null,"source":{"id":"https://openalex.org/S4377196655","display_name":"Digital Commons-TMC (Texas Medical Center)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1337852284","host_organization_name":"Texas Medical Center","host_organization_lineage":["https://openalex.org/I1337852284"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Faculty, Staff and Student Publications","raw_type":"text"},{"id":"pmh:oai:europepmc.org:11369925","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/12560794","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1093/bib/bbaf565","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bib/bbaf565","pdf_url":"https://academic.oup.com/bib/article-pdf/26/5/bbaf565/65004858/bbaf565.pdf","source":{"id":"https://openalex.org/S91767247","display_name":"Briefings in Bioinformatics","issn_l":"1467-5463","issn":["1467-5463","1477-4054"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Briefings in Bioinformatics","raw_type":"journal-article"},"sustainable_development_goals":[],"awards":[{"id":"https://openalex.org/G174454136","display_name":null,"funder_award_id":"R01LM012806","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G2555289976","display_name":null,"funder_award_id":"U01AG079847","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G3813486454","display_name":null,"funder_award_id":"R01LM012806","funder_id":"https://openalex.org/F4320308129","funder_display_name":"Cancer Prevention and Research Institute of Texas"},{"id":"https://openalex.org/G4793940158","display_name":null,"funder_award_id":"R01DE030122","funder_id":"https://openalex.org/F4320308129","funder_display_name":"Cancer Prevention and Research Institute of Texas"},{"id":"https://openalex.org/G5643102150","display_name":null,"funder_award_id":"R01LM012806-07S1","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G6646588417","display_name":null,"funder_award_id":"CPRIT RP210045","funder_id":"https://openalex.org/F4320308129","funder_display_name":"Cancer Prevention and Research Institute of Texas"},{"id":"https://openalex.org/G7253053689","display_name":null,"funder_award_id":"R01DE030122","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G7402308576","display_name":null,"funder_award_id":"RP240610","funder_id":"https://openalex.org/F4320308129","funder_display_name":"Cancer Prevention and Research Institute of Texas"},{"id":"https://openalex.org/G8100577519","display_name":null,"funder_award_id":"RP210045","funder_id":"https://openalex.org/F4320308129","funder_display_name":"Cancer Prevention and Research Institute of Texas"},{"id":"https://openalex.org/G8497683785","display_name":null,"funder_award_id":"CPRIT RP240610","funder_id":"https://openalex.org/F4320308129","funder_display_name":"Cancer Prevention and Research Institute of Texas"},{"id":"https://openalex.org/G8770013317","display_name":null,"funder_award_id":"RP210045","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"}],"funders":[{"id":"https://openalex.org/F4320308129","display_name":"Cancer Prevention and Research Institute of Texas","ror":"https://ror.org/0003xa228"},{"id":"https://openalex.org/F4320313675","display_name":"University of Texas Health Science Center at Houston","ror":"https://ror.org/03gds6c39"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4415695867.pdf","grobid_xml":"https://content.openalex.org/works/W4415695867.grobid-xml"},"referenced_works_count":46,"referenced_works":["https://openalex.org/W1966831629","https://openalex.org/W1990105219","https://openalex.org/W2021181758","https://openalex.org/W2036362108","https://openalex.org/W2037169299","https://openalex.org/W2038003980","https://openalex.org/W2058880763","https://openalex.org/W2114850508","https://openalex.org/W2124490243","https://openalex.org/W2128613449","https://openalex.org/W2146511318","https://openalex.org/W2168783124","https://openalex.org/W2174602966","https://openalex.org/W2345356016","https://openalex.org/W2904830263","https://openalex.org/W2906999721","https://openalex.org/W2962704196","https://openalex.org/W2980086570","https://openalex.org/W2994396953","https://openalex.org/W3007931728","https://openalex.org/W3048963803","https://openalex.org/W3090637695","https://openalex.org/W3106839128","https://openalex.org/W3112024186","https://openalex.org/W3129840527","https://openalex.org/W3134184401","https://openalex.org/W3141150984","https://openalex.org/W3163216082","https://openalex.org/W3166254219","https://openalex.org/W3214092816","https://openalex.org/W4200095581","https://openalex.org/W4298140123","https://openalex.org/W4311782097","https://openalex.org/W4313291184","https://openalex.org/W4366977444","https://openalex.org/W4384826670","https://openalex.org/W4389879930","https://openalex.org/W4391799427","https://openalex.org/W4400351505","https://openalex.org/W4401439441","https://openalex.org/W4402428446","https://openalex.org/W4403219765","https://openalex.org/W4403891911","https://openalex.org/W4404300486","https://openalex.org/W4407113951","https://openalex.org/W4414341624"],"related_works":[],"abstract_inverted_index":{"Polygenic":[0],"risk":[1,66],"scores":[2,75],"(PRS)":[3],"are":[4],"widely":[5],"used":[6],"to":[7,25,95,128,141,204],"assess":[8],"genetic":[9,115,189,230,239],"susceptibility":[10],"in":[11,39,99,191,210],"Alzheimer's":[12],"disease":[13],"(AD)":[14],"research.":[15],"However,":[16],"the":[17,102,134,198,214],"rapid":[18],"expansion":[19],"of":[20,200,216],"PRS":[21,61,193,206],"studies":[22],"has":[23],"led":[24],"dataset-specific":[26],"biases-stemming":[27],"from":[28,133],"factors":[29],"like":[30],"population":[31],"makeup,":[32],"genotyping":[33],"methods,":[34],"and":[35,43,46,118,137,185,208,220,237],"analysis":[36],"pipelines-that":[37],"result":[38],"inconsistent":[40],"variant":[41,67,116],"prioritization":[42],"limit":[44],"generalizability":[45],"reproducibility.":[47],"To":[48],"address":[49],"these":[50],"challenges,":[51],"we":[52,81,147],"propose":[53],"a":[54,154,225],"transductive":[55,157],"learning":[56,158],"framework":[57,181,227],"that":[58,174],"integrates":[59],"multiple":[60,192],"datasets":[62,132],"for":[63,104,109,114,120,228],"more":[64],"robust":[65,226],"prioritization,":[68],"incorporating":[69],"genome-wide":[70],"association":[71],"study":[72],"(GWAS)":[73],"priority":[74],"as":[76,153],"biologically":[77,201],"informed":[78],"priors.":[79],"Additionally,":[80],"introduce":[82],"BrainGeneBot,":[83],"an":[84],"AI-driven":[85],"tool":[86],"leveraging":[87],"generative":[88],"pretrained":[89],"transformers":[90],"with":[91,177],"retrieval-augmented":[92],"generation":[93],"technology":[94],"streamline":[96],"genomic":[97],"analyses":[98,140],"AD,":[100],"including":[101],"STRING":[103],"protein":[105],"interaction":[106],"analysis,":[107],"Enrichr":[108],"gene":[110],"set":[111],"enrichment,":[112],"ClinVar":[113],"interpretation,":[117,186],"Biopython":[119],"conducting":[121],"literature":[122],"searches.":[123],"We":[124],"apply":[125],"our":[126],"approach":[127,159,223],"publicly":[129],"available":[130],"AD":[131,211,218,229],"PGS":[135],"Catalog":[136],"conduct":[138],"further":[139],"validate":[142],"its":[143],"efficacy.":[144],"In":[145],"parallel,":[146],"perform":[148],"conventional":[149],"unsupervised":[150],"rank":[151],"aggregation":[152],"baseline.":[155],"The":[156],"not":[160],"only":[161],"verifies":[162],"high-risk":[163],"variants":[164,190],"identified":[165],"by":[166],"traditional":[167],"methods":[168],"but":[169],"also":[170],"reveals":[171],"unique":[172],"insights":[173,203],"better":[175],"correlate":[176],"GWAS":[178],"signals.":[179],"Our":[180,222],"streamlines":[182],"data":[183,233],"retrieval":[184],"effectively":[187],"prioritizing":[188],"studies.":[194],"Moreover,":[195],"BrainGeneBot":[196],"facilitates":[197],"discovery":[199],"meaningful":[202],"enhance":[205],"interpretability":[207],"applicability":[209],"research,":[212,231],"supporting":[213],"development":[215],"precise":[217],"interventions":[219],"treatments.":[221],"provides":[224],"improving":[232],"accessibility,":[234],"accelerating":[235],"discoveries,":[236],"refining":[238],"insights.":[240]},"counts_by_year":[{"year":2026,"cited_by_count":1}],"updated_date":"2026-06-11T09:08:48.828518","created_date":"2025-10-30T00:00:00"}
