{"id":"https://openalex.org/W4412778865","doi":"https://doi.org/10.1007/978-981-95-0698-9_1","title":"HCSeer: A Classification Tool for\u00a0Human Genetic Variant Hot and\u00a0Cold Spots Designed for\u00a0PM1 and\u00a0Benign Criteria in\u00a0the\u00a0ACMG Guideline","display_name":"HCSeer: A Classification Tool for\u00a0Human Genetic Variant Hot and\u00a0Cold Spots Designed for\u00a0PM1 and\u00a0Benign Criteria in\u00a0the\u00a0ACMG Guideline","publication_year":2025,"publication_date":"2025-07-31","ids":{"openalex":"https://openalex.org/W4412778865","doi":"https://doi.org/10.1007/978-981-95-0698-9_1"},"language":"en","primary_location":{"id":"doi:10.1007/978-981-95-0698-9_1","is_oa":false,"landing_page_url":"https://doi.org/10.1007/978-981-95-0698-9_1","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/A5119132509","display_name":"Xingquan Xia","orcid":null},"institutions":[{"id":"https://openalex.org/I49934816","display_name":"Hunan University of Technology","ror":"https://ror.org/04j3vr751","country_code":"CN","type":"education","lineage":["https://openalex.org/I49934816"]}],"countries":["CN"],"is_corresponding":true,"raw_author_name":"Xingquan Xia","raw_affiliation_strings":["School of Computer Science and Artificial Intelligence, Hunan University of Technology, ZhuZhou, 412007, Hunan, China"],"affiliations":[{"raw_affiliation_string":"School of Computer Science and Artificial Intelligence, Hunan University of Technology, ZhuZhou, 412007, Hunan, China","institution_ids":["https://openalex.org/I49934816"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100670180","display_name":"Guihu Zhao","orcid":"https://orcid.org/0000-0003-4033-1843"},"institutions":[{"id":"https://openalex.org/I139660479","display_name":"Central South University","ror":"https://ror.org/00f1zfq44","country_code":"CN","type":"education","lineage":["https://openalex.org/I139660479"]},{"id":"https://openalex.org/I4210126592","display_name":"National Clinical Research","ror":"https://ror.org/03ddkvp86","country_code":"US","type":"facility","lineage":["https://openalex.org/I4210126592"]},{"id":"https://openalex.org/I4210159865","display_name":"Xiangya Hospital Central South University","ror":"https://ror.org/05c1yfj14","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210159865"]}],"countries":["CN","US"],"is_corresponding":false,"raw_author_name":"Guihu Zhao","raw_affiliation_strings":["Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008, Hunan, China","National Clinical Research Center for Geriatric Disorders, Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, 410008, Hunan, China"],"affiliations":[{"raw_affiliation_string":"Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008, Hunan, China","institution_ids":["https://openalex.org/I4210159865","https://openalex.org/I139660479"]},{"raw_affiliation_string":"National Clinical Research Center for Geriatric Disorders, Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, 410008, Hunan, China","institution_ids":["https://openalex.org/I4210126592","https://openalex.org/I4210159865","https://openalex.org/I139660479"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5089592676","display_name":"Xinpan Yuan","orcid":"https://orcid.org/0000-0001-9509-0755"},"institutions":[{"id":"https://openalex.org/I49934816","display_name":"Hunan University of Technology","ror":"https://ror.org/04j3vr751","country_code":"CN","type":"education","lineage":["https://openalex.org/I49934816"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Xinpan Yuan","raw_affiliation_strings":["School of Computer Science and Artificial Intelligence, Hunan University of Technology, ZhuZhou, 412007, Hunan, China"],"affiliations":[{"raw_affiliation_string":"School of Computer Science and Artificial Intelligence, Hunan University of Technology, ZhuZhou, 412007, Hunan, China","institution_ids":["https://openalex.org/I49934816"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5119132509"],"corresponding_institution_ids":["https://openalex.org/I49934816"],"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":0.38281074,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":"1","last_page":"10"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","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/T11642","display_name":"Genomics and Rare Diseases","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/T10878","display_name":"CRISPR and Genetic Engineering","score":0.9925000071525574,"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":0.9848999977111816,"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/guideline","display_name":"Guideline","score":0.7970365285873413},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.7246265411376953},{"id":"https://openalex.org/keywords/medicine","display_name":"Medicine","score":0.13931792974472046},{"id":"https://openalex.org/keywords/pathology","display_name":"Pathology","score":0.0893772542476654}],"concepts":[{"id":"https://openalex.org/C2780182762","wikidata":"https://www.wikidata.org/wiki/Q1630279","display_name":"Guideline","level":2,"score":0.7970365285873413},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.7246265411376953},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.13931792974472046},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.0893772542476654}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1007/978-981-95-0698-9_1","is_oa":false,"landing_page_url":"https://doi.org/10.1007/978-981-95-0698-9_1","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":[{"display_name":"Zero hunger","id":"https://metadata.un.org/sdg/2","score":0.5}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":29,"referenced_works":["https://openalex.org/W1987971958","https://openalex.org/W2006319436","https://openalex.org/W2051978340","https://openalex.org/W2154986869","https://openalex.org/W2158529347","https://openalex.org/W2290195878","https://openalex.org/W2344185956","https://openalex.org/W2396849069","https://openalex.org/W2417483443","https://openalex.org/W2471468755","https://openalex.org/W2589261281","https://openalex.org/W2591494805","https://openalex.org/W2740116819","https://openalex.org/W2883054023","https://openalex.org/W2889851758","https://openalex.org/W2952766192","https://openalex.org/W2997707329","https://openalex.org/W2999699762","https://openalex.org/W3021652710","https://openalex.org/W3045924174","https://openalex.org/W3107922741","https://openalex.org/W4210397295","https://openalex.org/W4210928365","https://openalex.org/W4312129286","https://openalex.org/W4392508562","https://openalex.org/W4394794044","https://openalex.org/W4399384154","https://openalex.org/W4399733078","https://openalex.org/W4400550919"],"related_works":["https://openalex.org/W4391375266","https://openalex.org/W2899084033","https://openalex.org/W2748952813","https://openalex.org/W2339422290","https://openalex.org/W2397653702","https://openalex.org/W3019157102","https://openalex.org/W4233871529","https://openalex.org/W2338818750","https://openalex.org/W2365451219","https://openalex.org/W2415869793"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2025-11-06T03:46:38.306776","created_date":"2025-10-10T00:00:00"}