{"id":"https://openalex.org/W32532358","doi":"https://doi.org/10.1016/b978-0-12-404748-8.00008-3","title":"Single Nucleotide Variant Detection Using Next Generation Sequencing","display_name":"Single Nucleotide Variant Detection Using Next Generation Sequencing","publication_year":2014,"publication_date":"2014-11-15","ids":{"openalex":"https://openalex.org/W32532358","doi":"https://doi.org/10.1016/b978-0-12-404748-8.00008-3","mag":"32532358"},"language":"en","primary_location":{"id":"doi:10.1016/b978-0-12-404748-8.00008-3","doi":"https://doi.org/10.1016/b978-0-12-404748-8.00008-3","is_oa":false,"landing_page_url":"https://doi.org/10.1016/b978-0-12-404748-8.00008-3","pdf_url":null,"source":{"id":"https://openalex.org/S4306463230","display_name":"Elsevier eBooks","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"ebook platform"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Genomics","raw_type":"book-chapter"},"volume":{"id":"https://openalex.org/W4236624297","display_name":"Clinical Genomics"},"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/A5062422889","display_name":"David H. Spencer","orcid":"https://orcid.org/0000-0002-5314-3043","observed_orcids":["https://orcid.org/0000-0002-5314-3043"]},"institutions":[{"id":"https://openalex.org/I204465549","display_name":"Washington University in St. Louis","ror":"https://ror.org/01yc7t268","country_code":"US","type":"education","lineage":["https://openalex.org/I204465549"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"David H. Spencer","raw_affiliation_strings":["Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO, USA,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO, USA,","institution_ids":["https://openalex.org/I204465549"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100392792","display_name":"Bin Zhang","orcid":"https://orcid.org/0000-0001-8835-8370","observed_orcids":["https://orcid.org/0000-0001-8835-8370"]},"institutions":[{"id":"https://openalex.org/I204465549","display_name":"Washington University in St. Louis","ror":"https://ror.org/01yc7t268","country_code":"US","type":"education","lineage":["https://openalex.org/I204465549"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Bin Zhang","raw_affiliation_strings":["Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO, USA,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO, USA,","institution_ids":["https://openalex.org/I204465549"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5002293166","display_name":"John D. Pfeifer","orcid":"https://orcid.org/0000-0001-7652-5151","observed_orcids":["https://orcid.org/0000-0001-7652-5151"]},"institutions":[{"id":"https://openalex.org/I204465549","display_name":"Washington University in St. Louis","ror":"https://ror.org/01yc7t268","country_code":"US","type":"education","lineage":["https://openalex.org/I204465549"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"John Pfeifer","raw_affiliation_strings":["Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO, USA,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO, USA,","institution_ids":["https://openalex.org/I204465549"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I204465549"],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":19,"citation_normalized_percentile":{"value":0.0079929,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":null,"issue":null,"first_page":"109","last_page":"127"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.4000999927520752,"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":0.4000999927520752,"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":0.3337000012397766,"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/T11287","display_name":"Cancer Genomics and Diagnostics","score":0.25119999051094055,"subfield":{"id":"https://openalex.org/subfields/1306","display_name":"Cancer Research"},"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/single-nucleotide-variants","display_name":"single nucleotide variants","score":0.996999979019165},{"id":"https://openalex.org/keywords/variant-calling","display_name":"variant calling","score":0.6169999837875366},{"id":"https://openalex.org/keywords/next-generation-sequencing","display_name":"next-generation sequencing","score":0.9079999923706055},{"id":"https://openalex.org/keywords/somatic-mutations","display_name":"somatic mutations","score":0.6520000100135803},{"id":"https://openalex.org/keywords/variant-allele-frequency","display_name":"variant allele frequency","score":0.8259999752044678},{"id":"https://openalex.org/keywords/sequencing-depth","display_name":"sequencing depth","score":0.5419999957084656},{"id":"https://openalex.org/keywords/hybrid-capture","display_name":"hybridization capture","score":0.6060000061988831},{"id":"https://openalex.org/keywords/targeted-sequencing","display_name":"targeted sequencing","score":0.7120000123977661},{"id":"https://openalex.org/keywords/variant-effect-prediction","display_name":"variant effect prediction","score":0.4749999940395355},{"id":"https://openalex.org/keywords/cancer-genomics","display_name":"cancer genomics","score":0.4659999907016754}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6698505282402039},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.6274027228355408},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5648034811019897},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5435211658477783},{"id":"https://openalex.org/C64869954","wikidata":"https://www.wikidata.org/wiki/Q1859747","display_name":"False positive paradox","level":2,"score":0.525148868560791},{"id":"https://openalex.org/C552990157","wikidata":"https://www.wikidata.org/wiki/Q7430","display_name":"DNA","level":2,"score":0.40803787112236023},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.13474079966545105},{"id":"https://openalex.org/C119857082","wikidata":"https://www.wikidata.org/wiki/Q2539","display_name":"Machine learning","level":1,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1016/b978-0-12-404748-8.00008-3","doi":"https://doi.org/10.1016/b978-0-12-404748-8.00008-3","is_oa":false,"landing_page_url":"https://doi.org/10.1016/b978-0-12-404748-8.00008-3","pdf_url":null,"source":{"id":"https://openalex.org/S4306463230","display_name":"Elsevier eBooks","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"ebook platform"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Genomics","raw_type":"book-chapter"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.6240000128746033,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":108,"referenced_works":["https://openalex.org/W93335644","https://openalex.org/W1489408430","https://openalex.org/W1527347967","https://openalex.org/W1527680198","https://openalex.org/W1530764791","https://openalex.org/W1541815802","https://openalex.org/W1545047539","https://openalex.org/W1548528866","https://openalex.org/W1556683407","https://openalex.org/W1576472122","https://openalex.org/W1596062789","https://openalex.org/W1604692664","https://openalex.org/W1605691217","https://openalex.org/W1871766532","https://openalex.org/W1963965847","https://openalex.org/W1966201557","https://openalex.org/W1970438376","https://openalex.org/W1974113747","https://openalex.org/W1974958504","https://openalex.org/W1974989751","https://openalex.org/W1976361935","https://openalex.org/W1979229593","https://openalex.org/W1981567997","https://openalex.org/W1981928037","https://openalex.org/W1982964061","https://openalex.org/W1983954245","https://openalex.org/W1987397407","https://openalex.org/W1990785482","https://openalex.org/W1991633140","https://openalex.org/W1996341957","https://openalex.org/W1999790790","https://openalex.org/W2003873813","https://openalex.org/W2004767063","https://openalex.org/W2015823489","https://openalex.org/W2016455125","https://openalex.org/W2016621768","https://openalex.org/W2021839918","https://openalex.org/W2022296156","https://openalex.org/W2022320294","https://openalex.org/W2022888482","https://openalex.org/W2023524193","https://openalex.org/W2026247770","https://openalex.org/W2027671391","https://openalex.org/W2027770583","https://openalex.org/W2031412848","https://openalex.org/W2032465462","https://openalex.org/W2036690044","https://openalex.org/W2041994812","https://openalex.org/W2043182417","https://openalex.org/W2044060805","https://openalex.org/W2048553228","https://openalex.org/W2049656505","https://openalex.org/W2051524933","https://openalex.org/W2058401000","https://openalex.org/W2059886913","https://openalex.org/W2063318299","https://openalex.org/W2066655105","https://openalex.org/W2068514705","https://openalex.org/W2071204837","https://openalex.org/W2074378056","https://openalex.org/W2076110072","https://openalex.org/W2076597279","https://openalex.org/W2077590448","https://openalex.org/W2077594563","https://openalex.org/W2090295521","https://openalex.org/W2091383172","https://openalex.org/W2101248947","https://openalex.org/W2103441770","https://openalex.org/W2104493743","https://openalex.org/W2106195907","https://openalex.org/W2107916366","https://openalex.org/W2108234281","https://openalex.org/W2109465247","https://openalex.org/W2112113834","https://openalex.org/W2117304513","https://openalex.org/W2119284644","https://openalex.org/W2121841088","https://openalex.org/W2121902120","https://openalex.org/W2124960286","https://openalex.org/W2131876608","https://openalex.org/W2134344399","https://openalex.org/W2140159173","https://openalex.org/W2142441082","https://openalex.org/W2142513910","https://openalex.org/W2142781193","https://openalex.org/W2143173327","https://openalex.org/W2143197030","https://openalex.org/W2146245718","https://openalex.org/W2146290346","https://openalex.org/W2150575159","https://openalex.org/W2151794156","https://openalex.org/W2152241467","https://openalex.org/W2155943701","https://openalex.org/W2157816507","https://openalex.org/W2158399176","https://openalex.org/W2163221081","https://openalex.org/W2165414635","https://openalex.org/W2167852161","https://openalex.org/W2168133698","https://openalex.org/W2169895148","https://openalex.org/W2171777347","https://openalex.org/W2172144230","https://openalex.org/W2199166367","https://openalex.org/W2234168020","https://openalex.org/W2403189159","https://openalex.org/W2885727518","https://openalex.org/W7098838276","https://openalex.org/W7099585975"],"related_works":["https://openalex.org/W2033787474","https://openalex.org/W1490715662","https://openalex.org/W2964368730","https://openalex.org/W2116877734","https://openalex.org/W4313826564","https://openalex.org/W2922493472","https://openalex.org/W1968709543","https://openalex.org/W6977633565","https://openalex.org/W2161724277","https://openalex.org/W6968453800"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":3},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":3},{"year":2021,"cited_by_count":5},{"year":2020,"cited_by_count":3},{"year":2019,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}