{"id":"https://openalex.org/W4220976523","doi":"https://doi.org/10.1007/978-3-030-96308-8_98","title":"Genomic Variant Annotation: A Comprehensive Review of\u00a0Tools and\u00a0Techniques","display_name":"Genomic Variant Annotation: A Comprehensive Review of\u00a0Tools and\u00a0Techniques","publication_year":2022,"publication_date":"2022-01-01","ids":{"openalex":"https://openalex.org/W4220976523","doi":"https://doi.org/10.1007/978-3-030-96308-8_98"},"language":"en","primary_location":{"id":"doi:10.1007/978-3-030-96308-8_98","is_oa":false,"landing_page_url":"https://doi.org/10.1007/978-3-030-96308-8_98","pdf_url":null,"source":{"id":"https://openalex.org/S4210169156","display_name":"Lecture notes in networks and systems","issn_l":"2367-3370","issn":["2367-3370","2367-3389"],"is_oa":false,"is_in_doaj":false,"is_core":true,"host_organization":"https://openalex.org/P4310319972","host_organization_name":"Springer International Publishing","host_organization_lineage":["https://openalex.org/P4310319972","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer International Publishing","Springer Nature"],"type":"book series"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Lecture Notes in Networks and Systems","raw_type":"book-chapter"},"type":"review","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/A5063317408","display_name":"Prajna Hebbar","orcid":"https://orcid.org/0009-0008-9817-5330"},"institutions":[{"id":"https://openalex.org/I11880225","display_name":"National Institute of Technology Karnataka","ror":"https://ror.org/01hz4v948","country_code":"IN","type":"education","lineage":["https://openalex.org/I11880225"]}],"countries":["IN"],"is_corresponding":true,"raw_author_name":"Prajna Hebbar","raw_affiliation_strings":["Healthcare Analytics and Language Engineering (HALE) Lab, Department of Information Technology, National Institute of Technology Karnataka, Surathkal, Mangalore, 575025, India"],"affiliations":[{"raw_affiliation_string":"Healthcare Analytics and Language Engineering (HALE) Lab, Department of Information Technology, National Institute of Technology Karnataka, Surathkal, Mangalore, 575025, India","institution_ids":["https://openalex.org/I11880225"]}]},{"author_position":"last","author":{"id":null,"display_name":"S. Kamath Sowmya","orcid":null},"institutions":[{"id":"https://openalex.org/I11880225","display_name":"National Institute of Technology Karnataka","ror":"https://ror.org/01hz4v948","country_code":"IN","type":"education","lineage":["https://openalex.org/I11880225"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"S. Kamath Sowmya","raw_affiliation_strings":["Healthcare Analytics and Language Engineering (HALE) Lab, Department of Information Technology, National Institute of Technology Karnataka, Surathkal, Mangalore, 575025, India"],"affiliations":[{"raw_affiliation_string":"Healthcare Analytics and Language Engineering (HALE) Lab, Department of Information Technology, National Institute of Technology Karnataka, Surathkal, Mangalore, 575025, India","institution_ids":["https://openalex.org/I11880225"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5063317408"],"corresponding_institution_ids":["https://openalex.org/I11880225"],"apc_list":null,"apc_paid":null,"fwci":2.1738,"has_fulltext":false,"cited_by_count":3,"citation_normalized_percentile":{"value":0.87558786,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":90,"max":98},"biblio":{"volume":null,"issue":null,"first_page":"1057","last_page":"1067"},"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/T10015","display_name":"Genomics and Phylogenetic Studies","score":0.9987000226974487,"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/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9947999715805054,"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/annotation","display_name":"Annotation","score":0.9217926859855652},{"id":"https://openalex.org/keywords/data-science","display_name":"Data science","score":0.542717695236206},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.5051272511482239},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.5041083097457886},{"id":"https://openalex.org/keywords/genomics","display_name":"Genomics","score":0.4599771499633789},{"id":"https://openalex.org/keywords/dna-sequencing","display_name":"DNA sequencing","score":0.44562941789627075},{"id":"https://openalex.org/keywords/sequence","display_name":"Sequence (biology)","score":0.44374707341194153},{"id":"https://openalex.org/keywords/process","display_name":"Process (computing)","score":0.44314005970954895},{"id":"https://openalex.org/keywords/field","display_name":"Field (mathematics)","score":0.4359624981880188},{"id":"https://openalex.org/keywords/genome-project","display_name":"Genome project","score":0.4233441948890686},{"id":"https://openalex.org/keywords/information-retrieval","display_name":"Information retrieval","score":0.37611186504364014},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.28764626383781433},{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.25215375423431396},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.15902751684188843},{"id":"https://openalex.org/keywords/artificial-intelligence","display_name":"Artificial intelligence","score":0.14941483736038208},{"id":"https://openalex.org/keywords/dna","display_name":"DNA","score":0.12309727072715759},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.10500097274780273}],"concepts":[{"id":"https://openalex.org/C2776321320","wikidata":"https://www.wikidata.org/wiki/Q857525","display_name":"Annotation","level":2,"score":0.9217926859855652},{"id":"https://openalex.org/C2522767166","wikidata":"https://www.wikidata.org/wiki/Q2374463","display_name":"Data science","level":1,"score":0.542717695236206},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.5051272511482239},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5041083097457886},{"id":"https://openalex.org/C189206191","wikidata":"https://www.wikidata.org/wiki/Q222046","display_name":"Genomics","level":4,"score":0.4599771499633789},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.44562941789627075},{"id":"https://openalex.org/C2778112365","wikidata":"https://www.wikidata.org/wiki/Q3511065","display_name":"Sequence (biology)","level":2,"score":0.44374707341194153},{"id":"https://openalex.org/C98045186","wikidata":"https://www.wikidata.org/wiki/Q205663","display_name":"Process (computing)","level":2,"score":0.44314005970954895},{"id":"https://openalex.org/C9652623","wikidata":"https://www.wikidata.org/wiki/Q190109","display_name":"Field (mathematics)","level":2,"score":0.4359624981880188},{"id":"https://openalex.org/C89566754","wikidata":"https://www.wikidata.org/wiki/Q2273828","display_name":"Genome project","level":4,"score":0.4233441948890686},{"id":"https://openalex.org/C23123220","wikidata":"https://www.wikidata.org/wiki/Q816826","display_name":"Information retrieval","level":1,"score":0.37611186504364014},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.28764626383781433},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.25215375423431396},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.15902751684188843},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.14941483736038208},{"id":"https://openalex.org/C552990157","wikidata":"https://www.wikidata.org/wiki/Q7430","display_name":"DNA","level":2,"score":0.12309727072715759},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.10500097274780273},{"id":"https://openalex.org/C33923547","wikidata":"https://www.wikidata.org/wiki/Q395","display_name":"Mathematics","level":0,"score":0.0},{"id":"https://openalex.org/C111919701","wikidata":"https://www.wikidata.org/wiki/Q9135","display_name":"Operating system","level":1,"score":0.0},{"id":"https://openalex.org/C202444582","wikidata":"https://www.wikidata.org/wiki/Q837863","display_name":"Pure mathematics","level":1,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1007/978-3-030-96308-8_98","is_oa":false,"landing_page_url":"https://doi.org/10.1007/978-3-030-96308-8_98","pdf_url":null,"source":{"id":"https://openalex.org/S4210169156","display_name":"Lecture notes in networks and systems","issn_l":"2367-3370","issn":["2367-3370","2367-3389"],"is_oa":false,"is_in_doaj":false,"is_core":true,"host_organization":"https://openalex.org/P4310319972","host_organization_name":"Springer International Publishing","host_organization_lineage":["https://openalex.org/P4310319972","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer International Publishing","Springer Nature"],"type":"book series"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Lecture Notes in Networks and Systems","raw_type":"book-chapter"}],"best_oa_location":null,"sustainable_development_goals":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":49,"referenced_works":["https://openalex.org/W1563940013","https://openalex.org/W1967239133","https://openalex.org/W1984068087","https://openalex.org/W2011582941","https://openalex.org/W2022919667","https://openalex.org/W2037476500","https://openalex.org/W2076357933","https://openalex.org/W2082447166","https://openalex.org/W2089335658","https://openalex.org/W2096766502","https://openalex.org/W2103017472","https://openalex.org/W2106306904","https://openalex.org/W2106578986","https://openalex.org/W2111326065","https://openalex.org/W2117856964","https://openalex.org/W2122732537","https://openalex.org/W2129952088","https://openalex.org/W2132123037","https://openalex.org/W2137130968","https://openalex.org/W2137297899","https://openalex.org/W2137886330","https://openalex.org/W2141014201","https://openalex.org/W2145187337","https://openalex.org/W2145809383","https://openalex.org/W2146749911","https://openalex.org/W2148105023","https://openalex.org/W2154666391","https://openalex.org/W2159482845","https://openalex.org/W2160995259","https://openalex.org/W2161062388","https://openalex.org/W2174602966","https://openalex.org/W2225287204","https://openalex.org/W2248907500","https://openalex.org/W2285584854","https://openalex.org/W2417483443","https://openalex.org/W2594844287","https://openalex.org/W2767914218","https://openalex.org/W2807099429","https://openalex.org/W2901603331","https://openalex.org/W2981350712","https://openalex.org/W3003518864","https://openalex.org/W3037601773","https://openalex.org/W3041066960","https://openalex.org/W3093123864","https://openalex.org/W3106811464","https://openalex.org/W3205009295","https://openalex.org/W3209128922","https://openalex.org/W3211076230","https://openalex.org/W6746010201"],"related_works":["https://openalex.org/W2162782320","https://openalex.org/W2059565715","https://openalex.org/W3111061871","https://openalex.org/W4232413416","https://openalex.org/W2009940763","https://openalex.org/W2114034054","https://openalex.org/W1585937270","https://openalex.org/W2537312848","https://openalex.org/W45826765","https://openalex.org/W1760213857"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":1},{"year":2022,"cited_by_count":1}],"updated_date":"2026-04-16T08:26:57.006410","created_date":"2025-10-10T00:00:00"}
