{"id":"https://openalex.org/W4412587894","doi":"https://doi.org/10.1007/978-981-95-0036-9_8","title":"Leveraging Large Language Models for Early Diagnosis of Inherited Metabolic Diseases Evaluation and Optimization","display_name":"Leveraging Large Language Models for Early Diagnosis of Inherited Metabolic Diseases Evaluation and Optimization","publication_year":2025,"publication_date":"2025-01-01","ids":{"openalex":"https://openalex.org/W4412587894","doi":"https://doi.org/10.1007/978-981-95-0036-9_8"},"language":"en","primary_location":{"id":"doi:10.1007/978-981-95-0036-9_8","is_oa":false,"landing_page_url":"https://doi.org/10.1007/978-981-95-0036-9_8","pdf_url":null,"source":{"id":"https://openalex.org/S106296714","display_name":"Lecture notes in computer science","issn_l":"0302-9743","issn":["0302-9743","1611-3349"],"is_oa":false,"is_in_doaj":false,"is_core":true,"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"book series"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Lecture Notes in Computer Science","raw_type":"book-chapter"},"type":"book-chapter","indexed_in":["crossref"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5109175666","display_name":"Cindy Weng","orcid":"https://orcid.org/0009-0002-7542-0520"},"institutions":[{"id":"https://openalex.org/I109935558","display_name":"Ningbo University","ror":"https://ror.org/03et85d35","country_code":"CN","type":"education","lineage":["https://openalex.org/I109935558"]},{"id":"https://openalex.org/I76130692","display_name":"Zhejiang University","ror":"https://ror.org/00a2xv884","country_code":"CN","type":"education","lineage":["https://openalex.org/I76130692"]}],"countries":["CN"],"is_corresponding":true,"raw_author_name":"Chentian Weng","raw_affiliation_strings":["School of Software Technology, Zhejiang University, Ningbo, China"],"affiliations":[{"raw_affiliation_string":"School of Software Technology, Zhejiang University, Ningbo, China","institution_ids":["https://openalex.org/I109935558","https://openalex.org/I76130692"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5115592767","display_name":"Xin Yang","orcid":"https://orcid.org/0009-0002-6190-2588"},"institutions":[{"id":"https://openalex.org/I4210113495","display_name":"Children's Hospital of Zhejiang University","ror":"https://ror.org/025fyfd20","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210113495"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Xin Yang","raw_affiliation_strings":["Department of Genetics and Metabolism, the Children\u2019s Hospital of Zhejiang University School of Medicine, Hangzhou, China","National Clinical Research Center for Child Health, Hangzhou, China"],"affiliations":[{"raw_affiliation_string":"Department of Genetics and Metabolism, the Children\u2019s Hospital of Zhejiang University School of Medicine, Hangzhou, China","institution_ids":["https://openalex.org/I4210113495"]},{"raw_affiliation_string":"National Clinical Research Center for Child Health, Hangzhou, China","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102223907","display_name":"Yaping Shen","orcid":null},"institutions":[{"id":"https://openalex.org/I4210113495","display_name":"Children's Hospital of Zhejiang University","ror":"https://ror.org/025fyfd20","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210113495"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yaping Shen","raw_affiliation_strings":["Department of Genetics and Metabolism, the Children\u2019s Hospital of Zhejiang University School of Medicine, Hangzhou, China","National Clinical Research Center for Child Health, Hangzhou, China"],"affiliations":[{"raw_affiliation_string":"Department of Genetics and Metabolism, the Children\u2019s Hospital of Zhejiang University School of Medicine, Hangzhou, China","institution_ids":["https://openalex.org/I4210113495"]},{"raw_affiliation_string":"National Clinical Research Center for Child Health, Hangzhou, China","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5009074046","display_name":"Xing Xu","orcid":"https://orcid.org/0000-0001-5685-3123"},"institutions":[{"id":"https://openalex.org/I4210113495","display_name":"Children's Hospital of Zhejiang University","ror":"https://ror.org/025fyfd20","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210113495"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Xiaocha Xu","raw_affiliation_strings":["Department of Genetics and Metabolism, the Children\u2019s Hospital of Zhejiang University School of Medicine, Hangzhou, China","National Clinical Research Center for Child Health, Hangzhou, China"],"affiliations":[{"raw_affiliation_string":"Department of Genetics and Metabolism, the Children\u2019s Hospital of Zhejiang University School of Medicine, Hangzhou, China","institution_ids":["https://openalex.org/I4210113495"]},{"raw_affiliation_string":"National Clinical Research Center for Child Health, Hangzhou, China","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5101523682","display_name":"Bo Lin","orcid":"https://orcid.org/0000-0001-5682-2140"},"institutions":[{"id":"https://openalex.org/I109935558","display_name":"Ningbo University","ror":"https://ror.org/03et85d35","country_code":"CN","type":"education","lineage":["https://openalex.org/I109935558"]},{"id":"https://openalex.org/I76130692","display_name":"Zhejiang University","ror":"https://ror.org/00a2xv884","country_code":"CN","type":"education","lineage":["https://openalex.org/I76130692"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Bo Lin","raw_affiliation_strings":["Innovation Centre for Information, Binjiang Institute of Zhejiang University, Hangzhou, China","School of Software Technology, Zhejiang University, Ningbo, China"],"affiliations":[{"raw_affiliation_string":"Innovation Centre for Information, Binjiang Institute of Zhejiang University, Hangzhou, China","institution_ids":["https://openalex.org/I76130692"]},{"raw_affiliation_string":"School of Software Technology, Zhejiang University, Ningbo, China","institution_ids":["https://openalex.org/I109935558","https://openalex.org/I76130692"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5109175666"],"corresponding_institution_ids":["https://openalex.org/I109935558","https://openalex.org/I76130692"],"apc_list":{"value":5000,"currency":"EUR","value_usd":5392},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.34942477,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":"89","last_page":"99"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9916999936103821,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.9916999936103821,"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/T12254","display_name":"Machine Learning in Bioinformatics","score":0.9830999970436096,"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/T11482","display_name":"RNA modifications and cancer","score":0.9811000227928162,"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/computer-science","display_name":"Computer science","score":0.8332011103630066},{"id":"https://openalex.org/keywords/natural-language-processing","display_name":"Natural language processing","score":0.39243507385253906},{"id":"https://openalex.org/keywords/artificial-intelligence","display_name":"Artificial intelligence","score":0.3875400424003601}],"concepts":[{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.8332011103630066},{"id":"https://openalex.org/C204321447","wikidata":"https://www.wikidata.org/wiki/Q30642","display_name":"Natural language processing","level":1,"score":0.39243507385253906},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.3875400424003601}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1007/978-981-95-0036-9_8","is_oa":false,"landing_page_url":"https://doi.org/10.1007/978-981-95-0036-9_8","pdf_url":null,"source":{"id":"https://openalex.org/S106296714","display_name":"Lecture notes in computer science","issn_l":"0302-9743","issn":["0302-9743","1611-3349"],"is_oa":false,"is_in_doaj":false,"is_core":true,"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"book series"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Lecture Notes in Computer Science","raw_type":"book-chapter"}],"best_oa_location":null,"sustainable_development_goals":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":11,"referenced_works":["https://openalex.org/W3113498109","https://openalex.org/W3144835056","https://openalex.org/W4400232090","https://openalex.org/W4402324956","https://openalex.org/W4402614593","https://openalex.org/W4403782233","https://openalex.org/W4404376971","https://openalex.org/W4405321560","https://openalex.org/W6601676141","https://openalex.org/W6630858386","https://openalex.org/W6796581206"],"related_works":["https://openalex.org/W4391375266","https://openalex.org/W2899084033","https://openalex.org/W2748952813","https://openalex.org/W2390279801","https://openalex.org/W4391913857","https://openalex.org/W2358668433","https://openalex.org/W4396701345","https://openalex.org/W2376932109","https://openalex.org/W2001405890","https://openalex.org/W3204019825"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2025-11-06T03:46:38.306776","created_date":"2025-10-10T00:00:00"}
