{"id":"https://openalex.org/W2042838021","doi":"https://doi.org/10.1093/bib/bbu047","title":"Making the difference: integrating structural variation detection tools","display_name":"Making the difference: integrating structural variation detection tools","publication_year":2014,"publication_date":"2014-12-12","ids":{"openalex":"https://openalex.org/W2042838021","doi":"https://doi.org/10.1093/bib/bbu047","mag":"2042838021","pmid":"https://pubmed.ncbi.nlm.nih.gov/25504367"},"language":"en","primary_location":{"id":"doi:10.1093/bib/bbu047","is_oa":false,"landing_page_url":"https://doi.org/10.1093/bib/bbu047","pdf_url":null,"source":{"id":"https://openalex.org/S91767247","display_name":"Briefings in Bioinformatics","issn_l":"1467-5463","issn":["1467-5463","1477-4054"],"is_oa":false,"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":null,"license_id":null,"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":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5102388243","display_name":"Ke Lin","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ke Lin","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016406116","display_name":"Sandra Smit","orcid":"https://orcid.org/0000-0001-5239-5321"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Sandra Smit","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027354845","display_name":"Guusje Bonnema","orcid":"https://orcid.org/0000-0002-2298-6849"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Guusje Bonnema","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5060293610","display_name":"Gabino Sanchez\u2010Perez","orcid":"https://orcid.org/0000-0002-2692-9892"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Gabino Sanchez-Perez","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5080533789","display_name":"Dick de Ridder","orcid":"https://orcid.org/0000-0002-4944-4310"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Dick de Ridder","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":5,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":4011,"currency":"USD","value_usd":4011},"apc_paid":null,"fwci":2.9888,"has_fulltext":false,"cited_by_count":80,"citation_normalized_percentile":{"value":0.91667145,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":94,"max":100},"biblio":{"volume":"16","issue":"5","first_page":"852","last_page":"864"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10015","display_name":"Genomics and Phylogenetic Studies","score":0.9998999834060669,"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"}},"topics":[{"id":"https://openalex.org/T10015","display_name":"Genomics and Phylogenetic Studies","score":0.9998999834060669,"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/T10012","display_name":"Genetic diversity and population structure","score":0.9986000061035156,"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/T11764","display_name":"Evolution and Genetic Dynamics","score":0.9968000054359436,"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/structural-variation","display_name":"Structural variation","score":0.8025267124176025},{"id":"https://openalex.org/keywords/variation","display_name":"Variation (astronomy)","score":0.7678741216659546},{"id":"https://openalex.org/keywords/exploit","display_name":"Exploit","score":0.662785530090332},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.6134523153305054},{"id":"https://openalex.org/keywords/data-science","display_name":"Data science","score":0.5810758471488953},{"id":"https://openalex.org/keywords/adaptation","display_name":"Adaptation (eye)","score":0.5159469246864319},{"id":"https://openalex.org/keywords/genomics","display_name":"Genomics","score":0.503462016582489},{"id":"https://openalex.org/keywords/population","display_name":"Population","score":0.46730777621269226},{"id":"https://openalex.org/keywords/set","display_name":"Set (abstract data type)","score":0.4414103329181671},{"id":"https://openalex.org/keywords/range","display_name":"Range (aeronautics)","score":0.4321579337120056},{"id":"https://openalex.org/keywords/population-genomics","display_name":"Population genomics","score":0.41751405596733093},{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.34402644634246826},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.2096085548400879},{"id":"https://openalex.org/keywords/computer-security","display_name":"Computer security","score":0.1121583878993988},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.1030820906162262},{"id":"https://openalex.org/keywords/engineering","display_name":"Engineering","score":0.09631401300430298},{"id":"https://openalex.org/keywords/medicine","display_name":"Medicine","score":0.06707808375358582},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.061877936124801636}],"concepts":[{"id":"https://openalex.org/C151020129","wikidata":"https://www.wikidata.org/wiki/Q7625067","display_name":"Structural variation","level":4,"score":0.8025267124176025},{"id":"https://openalex.org/C2778334786","wikidata":"https://www.wikidata.org/wiki/Q1586270","display_name":"Variation (astronomy)","level":2,"score":0.7678741216659546},{"id":"https://openalex.org/C165696696","wikidata":"https://www.wikidata.org/wiki/Q11287","display_name":"Exploit","level":2,"score":0.662785530090332},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.6134523153305054},{"id":"https://openalex.org/C2522767166","wikidata":"https://www.wikidata.org/wiki/Q2374463","display_name":"Data science","level":1,"score":0.5810758471488953},{"id":"https://openalex.org/C139807058","wikidata":"https://www.wikidata.org/wiki/Q352374","display_name":"Adaptation (eye)","level":2,"score":0.5159469246864319},{"id":"https://openalex.org/C189206191","wikidata":"https://www.wikidata.org/wiki/Q222046","display_name":"Genomics","level":4,"score":0.503462016582489},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.46730777621269226},{"id":"https://openalex.org/C177264268","wikidata":"https://www.wikidata.org/wiki/Q1514741","display_name":"Set (abstract data type)","level":2,"score":0.4414103329181671},{"id":"https://openalex.org/C204323151","wikidata":"https://www.wikidata.org/wiki/Q905424","display_name":"Range (aeronautics)","level":2,"score":0.4321579337120056},{"id":"https://openalex.org/C2779040068","wikidata":"https://www.wikidata.org/wiki/Q7229807","display_name":"Population genomics","level":5,"score":0.41751405596733093},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.34402644634246826},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2096085548400879},{"id":"https://openalex.org/C38652104","wikidata":"https://www.wikidata.org/wiki/Q3510521","display_name":"Computer security","level":1,"score":0.1121583878993988},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.1030820906162262},{"id":"https://openalex.org/C127413603","wikidata":"https://www.wikidata.org/wiki/Q11023","display_name":"Engineering","level":0,"score":0.09631401300430298},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.06707808375358582},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.061877936124801636},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.0},{"id":"https://openalex.org/C199360897","wikidata":"https://www.wikidata.org/wiki/Q9143","display_name":"Programming language","level":1,"score":0.0},{"id":"https://openalex.org/C121332964","wikidata":"https://www.wikidata.org/wiki/Q413","display_name":"Physics","level":0,"score":0.0},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0},{"id":"https://openalex.org/C44870925","wikidata":"https://www.wikidata.org/wiki/Q37547","display_name":"Astrophysics","level":1,"score":0.0},{"id":"https://openalex.org/C146978453","wikidata":"https://www.wikidata.org/wiki/Q3798668","display_name":"Aerospace engineering","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D003627","descriptor_name":"Data Interpretation, Statistical","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003627","descriptor_name":"Data Interpretation, Statistical","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003627","descriptor_name":"Data Interpretation, Statistical","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005828","descriptor_name":"Genetics, Population","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005828","descriptor_name":"Genetics, Population","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005828","descriptor_name":"Genetics, Population","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016678","descriptor_name":"Genome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016678","descriptor_name":"Genome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016678","descriptor_name":"Genome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.1093/bib/bbu047","is_oa":false,"landing_page_url":"https://doi.org/10.1093/bib/bbu047","pdf_url":null,"source":{"id":"https://openalex.org/S91767247","display_name":"Briefings in Bioinformatics","issn_l":"1467-5463","issn":["1467-5463","1477-4054"],"is_oa":false,"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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Briefings in Bioinformatics","raw_type":"journal-article"},{"id":"pmid:25504367","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/25504367","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:wur:oai:library.wur.nl:wurpubs/481341","is_oa":false,"landing_page_url":"https://research.wur.nl/en/publications/making-the-difference-integrating-structural-variation-detection-","pdf_url":null,"source":{"id":"https://openalex.org/S4306401843","display_name":"Data Archiving and Networked Services (DANS)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1322597698","host_organization_name":"Royal Netherlands Academy of Arts and Sciences","host_organization_lineage":["https://openalex.org/I1322597698"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Briefings in Bioinformatics, 16(5), 852 - 864","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":null,"sustainable_development_goals":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":120,"referenced_works":["https://openalex.org/W1487118672","https://openalex.org/W1908617982","https://openalex.org/W1966520799","https://openalex.org/W1968216700","https://openalex.org/W1973067702","https://openalex.org/W1975653746","https://openalex.org/W1976311394","https://openalex.org/W1976710643","https://openalex.org/W1977314055","https://openalex.org/W1984514080","https://openalex.org/W1985468994","https://openalex.org/W1987890230","https://openalex.org/W1992183805","https://openalex.org/W2000586119","https://openalex.org/W2008917440","https://openalex.org/W2010361633","https://openalex.org/W2012016911","https://openalex.org/W2017961691","https://openalex.org/W2023132255","https://openalex.org/W2023918737","https://openalex.org/W2028919921","https://openalex.org/W2030191595","https://openalex.org/W2032247293","https://openalex.org/W2034677156","https://openalex.org/W2035438886","https://openalex.org/W2035593347","https://openalex.org/W2039959586","https://openalex.org/W2041937775","https://openalex.org/W2046601740","https://openalex.org/W2056571985","https://openalex.org/W2057998085","https://openalex.org/W2058336589","https://openalex.org/W2060965924","https://openalex.org/W2064821738","https://openalex.org/W2065817684","https://openalex.org/W2068206509","https://openalex.org/W2069577154","https://openalex.org/W2075663425","https://openalex.org/W2076124986","https://openalex.org/W2082120419","https://openalex.org/W2082376103","https://openalex.org/W2083870688","https://openalex.org/W2084054059","https://openalex.org/W2084981198","https://openalex.org/W2091687746","https://openalex.org/W2092203068","https://openalex.org/W2096791516","https://openalex.org/W2101342813","https://openalex.org/W2102907886","https://openalex.org/W2103011829","https://openalex.org/W2103800036","https://openalex.org/W2105164094","https://openalex.org/W2105510846","https://openalex.org/W2107126369","https://openalex.org/W2107282968","https://openalex.org/W2107830007","https://openalex.org/W2108958594","https://openalex.org/W2110171180","https://openalex.org/W2111350087","https://openalex.org/W2113649367","https://openalex.org/W2114442654","https://openalex.org/W2114850885","https://openalex.org/W2116126626","https://openalex.org/W2117716708","https://openalex.org/W2118471291","https://openalex.org/W2121729186","https://openalex.org/W2121743948","https://openalex.org/W2123871174","https://openalex.org/W2127551300","https://openalex.org/W2128494305","https://openalex.org/W2129148650","https://openalex.org/W2130650589","https://openalex.org/W2132054720","https://openalex.org/W2132298698","https://openalex.org/W2132731072","https://openalex.org/W2132824181","https://openalex.org/W2135253885","https://openalex.org/W2136430672","https://openalex.org/W2136943355","https://openalex.org/W2137779717","https://openalex.org/W2138189131","https://openalex.org/W2139747296","https://openalex.org/W2139993758","https://openalex.org/W2140869203","https://openalex.org/W2141437496","https://openalex.org/W2142642738","https://openalex.org/W2143123581","https://openalex.org/W2143196035","https://openalex.org/W2143307936","https://openalex.org/W2144383149","https://openalex.org/W2146005104","https://openalex.org/W2146821392","https://openalex.org/W2147354890","https://openalex.org/W2148875515","https://openalex.org/W2150506261","https://openalex.org/W2151672054","https://openalex.org/W2152085298","https://openalex.org/W2154397429","https://openalex.org/W2155754476","https://openalex.org/W2155837964","https://openalex.org/W2159640103","https://openalex.org/W2160344363","https://openalex.org/W2160612450","https://openalex.org/W2161164257","https://openalex.org/W2162897417","https://openalex.org/W2163549019","https://openalex.org/W2164558813","https://openalex.org/W2164837302","https://openalex.org/W2165546936","https://openalex.org/W2166359802","https://openalex.org/W2166469005","https://openalex.org/W2168798091","https://openalex.org/W2169145121","https://openalex.org/W2169508919","https://openalex.org/W2169963963","https://openalex.org/W2170855681","https://openalex.org/W2171467729","https://openalex.org/W2171777347","https://openalex.org/W2186783357","https://openalex.org/W2885727518"],"related_works":["https://openalex.org/W3113639865","https://openalex.org/W2939866924","https://openalex.org/W4233657210","https://openalex.org/W2435275176","https://openalex.org/W2042157734","https://openalex.org/W2102597440","https://openalex.org/W2528393243","https://openalex.org/W1555811563","https://openalex.org/W4281746581","https://openalex.org/W2981913213"],"abstract_inverted_index":{"From":[0],"prokaryotes":[1],"to":[2,125],"eukaryotes,":[3],"phenotypic":[4],"variation,":[5,64],"adaptation":[6],"and":[7,104],"speciation":[8],"has":[9],"been":[10,32],"associated":[11],"with":[12],"structural":[13,63,138],"variation":[14,139],"between":[15],"genomes":[16],"of":[17,38,62,96,108],"individuals":[18],"within":[19],"the":[20,36,39,80,101],"same":[21],"species.":[22],"Many":[23],"computer":[24],"algorithms":[25],"detecting":[26],"such":[27,127],"variations":[28],"(callers)":[29],"have":[30],"recently":[31],"developed,":[33],"spurred":[34],"by":[35],"advent":[37],"next-generation":[40],"sequencing":[41],"technology.":[42],"Such":[43],"callers":[44,56,82],"mainly":[45],"exploit":[46],"split-read":[47],"mapping":[48],"or":[49],"paired-end":[50],"read":[51],"mapping.":[52],"However,":[53],"as":[54],"different":[55,60],"are":[57,83],"geared":[58],"towards":[59],"types":[61],"there":[65],"is":[66],"still":[67],"no":[68],"single":[69],"caller":[70],"that":[71],"can":[72],"be":[73],"considered":[74],"a":[75,93,106],"community":[76],"standard;":[77],"instead,":[78],"increasingly":[79],"various":[81],"combined":[84],"in":[85,100,111,137],"integrated":[86],"pipelines.":[87,128],"In":[88],"this":[89],"article,":[90],"we":[91,119,130],"review":[92],"wide":[94],"range":[95],"callers,":[97],"discuss":[98],"challenges":[99,136],"integration":[102],"step":[103],"present":[105,131],"survey":[107],"pipelines":[109],"used":[110],"population":[112],"genomics":[113],"studies.":[114],"Based":[115],"on":[116,123,134],"our":[117],"findings,":[118],"provide":[120],"general":[121],"recommendations":[122],"how":[124],"set-up":[126],"Finally,":[129],"an":[132],"outlook":[133],"future":[135],"detection.":[140]},"counts_by_year":[{"year":2025,"cited_by_count":3},{"year":2024,"cited_by_count":7},{"year":2023,"cited_by_count":10},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":4},{"year":2020,"cited_by_count":17},{"year":2019,"cited_by_count":9},{"year":2018,"cited_by_count":7},{"year":2017,"cited_by_count":7},{"year":2016,"cited_by_count":11},{"year":2015,"cited_by_count":3}],"updated_date":"2026-06-11T09:08:48.828518","created_date":"2025-10-10T00:00:00"}
