{"id":"https://openalex.org/W2130915401","doi":"https://doi.org/10.1093/bioinformatics/btm365","title":"A Laboratory Information Management System (LIMS) for a high throughput genetic platform aimed at candidate gene mutation screening","display_name":"A Laboratory Information Management System (LIMS) for a high throughput genetic platform aimed at candidate gene mutation screening","publication_year":2007,"publication_date":"2007-08-21","ids":{"openalex":"https://openalex.org/W2130915401","doi":"https://doi.org/10.1093/bioinformatics/btm365","mag":"2130915401","pmid":"https://pubmed.ncbi.nlm.nih.gov/17709339"},"language":"en","primary_location":{"id":"doi:10.1093/bioinformatics/btm365","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btm365","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/23/18/2504/49816587/bioinformatics_23_18_2504.pdf","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"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":"Bioinformatics","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://academic.oup.com/bioinformatics/article-pdf/23/18/2504/49816587/bioinformatics_23_18_2504.pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5046484435","display_name":"Catherine Voegele","orcid":"https://orcid.org/0000-0002-9592-8869"},"institutions":[{"id":"https://openalex.org/I42237331","display_name":"Centre international de recherche sur le cancer","ror":"https://ror.org/00v452281","country_code":"FR","type":"government","lineage":["https://openalex.org/I4210105654","https://openalex.org/I42237331"]}],"countries":["FR"],"is_corresponding":true,"raw_author_name":"C. Voegele","raw_affiliation_strings":["1 International Agency for Research on Cancer (IARC), Lyon, France and 2Department of Medical Informatics, University of Utah, Salt Lake City, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1 International Agency for Research on Cancer (IARC), Lyon, France and 2Department of Medical Informatics, University of Utah, Salt Lake City, USA","institution_ids":["https://openalex.org/I42237331"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057093670","display_name":"Sean V. Tavtigian","orcid":"https://orcid.org/0000-0002-7543-8221"},"institutions":[{"id":"https://openalex.org/I42237331","display_name":"Centre international de recherche sur le cancer","ror":"https://ror.org/00v452281","country_code":"FR","type":"government","lineage":["https://openalex.org/I4210105654","https://openalex.org/I42237331"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"S.V. Tavtigian","raw_affiliation_strings":["1 International Agency for Research on Cancer (IARC), Lyon, France and 2Department of Medical Informatics, University of Utah, Salt Lake City, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1 International Agency for Research on Cancer (IARC), Lyon, France and 2Department of Medical Informatics, University of Utah, Salt Lake City, USA","institution_ids":["https://openalex.org/I42237331"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064845769","display_name":"Daswin De Silva","orcid":"https://orcid.org/0000-0003-3878-5969"},"institutions":[{"id":"https://openalex.org/I42237331","display_name":"Centre international de recherche sur le cancer","ror":"https://ror.org/00v452281","country_code":"FR","type":"government","lineage":["https://openalex.org/I4210105654","https://openalex.org/I42237331"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"D. de Silva","raw_affiliation_strings":["1 International Agency for Research on Cancer (IARC), Lyon, France and 2Department of Medical Informatics, University of Utah, Salt Lake City, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1 International Agency for Research on Cancer (IARC), Lyon, France and 2Department of Medical Informatics, University of Utah, Salt Lake City, USA","institution_ids":["https://openalex.org/I42237331"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062010355","display_name":"S. Cuber","orcid":null},"institutions":[{"id":"https://openalex.org/I42237331","display_name":"Centre international de recherche sur le cancer","ror":"https://ror.org/00v452281","country_code":"FR","type":"government","lineage":["https://openalex.org/I4210105654","https://openalex.org/I42237331"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"S. Cuber","raw_affiliation_strings":["1 International Agency for Research on Cancer (IARC), Lyon, France and 2Department of Medical Informatics, University of Utah, Salt Lake City, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1 International Agency for Research on Cancer (IARC), Lyon, France and 2Department of Medical Informatics, University of Utah, Salt Lake City, USA","institution_ids":["https://openalex.org/I42237331"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070286540","display_name":"Alun Thomas","orcid":"https://orcid.org/0000-0001-5650-7044"},"institutions":[{"id":"https://openalex.org/I42237331","display_name":"Centre international de recherche sur le cancer","ror":"https://ror.org/00v452281","country_code":"FR","type":"government","lineage":["https://openalex.org/I4210105654","https://openalex.org/I42237331"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"A. Thomas","raw_affiliation_strings":["1 International Agency for Research on Cancer (IARC), Lyon, France and 2Department of Medical Informatics, University of Utah, Salt Lake City, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1 International Agency for Research on Cancer (IARC), Lyon, France and 2Department of Medical Informatics, University of Utah, Salt Lake City, USA","institution_ids":["https://openalex.org/I42237331"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5090875081","display_name":"Florence Le Calvez\u2010Kelm","orcid":"https://orcid.org/0000-0003-0063-5068"},"institutions":[{"id":"https://openalex.org/I42237331","display_name":"Centre international de recherche sur le cancer","ror":"https://ror.org/00v452281","country_code":"FR","type":"government","lineage":["https://openalex.org/I4210105654","https://openalex.org/I42237331"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"F. Le Calvez-Kelm","raw_affiliation_strings":["1 International Agency for Research on Cancer (IARC), Lyon, France and 2Department of Medical Informatics, University of Utah, Salt Lake City, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1 International Agency for Research on Cancer (IARC), Lyon, France and 2Department of Medical Informatics, University of Utah, Salt Lake City, USA","institution_ids":["https://openalex.org/I42237331"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5046484435"],"corresponding_institution_ids":["https://openalex.org/I42237331"],"apc_list":{"value":3618,"currency":"USD","value_usd":3618},"apc_paid":null,"fwci":1.0914,"has_fulltext":true,"cited_by_count":27,"citation_normalized_percentile":{"value":0.80392318,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":97},"biblio":{"volume":"23","issue":"18","first_page":"2504","last_page":"2506"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.24740000069141388,"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":0.24740000069141388,"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/T11986","display_name":"Scientific Computing and Data Management","score":0.15960000455379486,"subfield":{"id":"https://openalex.org/subfields/1802","display_name":"Information Systems and Management"},"field":{"id":"https://openalex.org/fields/18","display_name":"Decision Sciences"},"domain":{"id":"https://openalex.org/domains/2","display_name":"Social Sciences"}},{"id":"https://openalex.org/T11710","display_name":"Biomedical Text Mining and Ontologies","score":0.060100000351667404,"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/workflow","display_name":"Workflow","score":0.7389864921569824},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.7108606100082397},{"id":"https://openalex.org/keywords/throughput","display_name":"Throughput","score":0.6109153032302856},{"id":"https://openalex.org/keywords/database","display_name":"Database","score":0.5269193053245544},{"id":"https://openalex.org/keywords/table","display_name":"Table (database)","score":0.49764731526374817},{"id":"https://openalex.org/keywords/tracking-system","display_name":"Tracking system","score":0.4692801237106323},{"id":"https://openalex.org/keywords/process","display_name":"Process (computing)","score":0.45969927310943604},{"id":"https://openalex.org/keywords/source-code","display_name":"Source code","score":0.4327927529811859},{"id":"https://openalex.org/keywords/operating-system","display_name":"Operating system","score":0.22568148374557495}],"concepts":[{"id":"https://openalex.org/C177212765","wikidata":"https://www.wikidata.org/wiki/Q627335","display_name":"Workflow","level":2,"score":0.7389864921569824},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.7108606100082397},{"id":"https://openalex.org/C157764524","wikidata":"https://www.wikidata.org/wiki/Q1383412","display_name":"Throughput","level":3,"score":0.6109153032302856},{"id":"https://openalex.org/C77088390","wikidata":"https://www.wikidata.org/wiki/Q8513","display_name":"Database","level":1,"score":0.5269193053245544},{"id":"https://openalex.org/C45235069","wikidata":"https://www.wikidata.org/wiki/Q278425","display_name":"Table (database)","level":2,"score":0.49764731526374817},{"id":"https://openalex.org/C154586513","wikidata":"https://www.wikidata.org/wiki/Q4420972","display_name":"Tracking system","level":3,"score":0.4692801237106323},{"id":"https://openalex.org/C98045186","wikidata":"https://www.wikidata.org/wiki/Q205663","display_name":"Process (computing)","level":2,"score":0.45969927310943604},{"id":"https://openalex.org/C43126263","wikidata":"https://www.wikidata.org/wiki/Q128751","display_name":"Source code","level":2,"score":0.4327927529811859},{"id":"https://openalex.org/C111919701","wikidata":"https://www.wikidata.org/wiki/Q9135","display_name":"Operating system","level":1,"score":0.22568148374557495},{"id":"https://openalex.org/C106131492","wikidata":"https://www.wikidata.org/wiki/Q3072260","display_name":"Filter (signal processing)","level":2,"score":0.0},{"id":"https://openalex.org/C31972630","wikidata":"https://www.wikidata.org/wiki/Q844240","display_name":"Computer vision","level":1,"score":0.0},{"id":"https://openalex.org/C555944384","wikidata":"https://www.wikidata.org/wiki/Q249","display_name":"Wireless","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D003195","descriptor_name":"Computer Communication Networks","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D003195","descriptor_name":"Computer Communication Networks","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D003195","descriptor_name":"Computer Communication Networks","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D003628","descriptor_name":"Database Management Systems","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D003628","descriptor_name":"Database Management Systems","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D003628","descriptor_name":"Database Management Systems","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014584","descriptor_name":"User-Computer Interface","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014584","descriptor_name":"User-Computer Interface","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014584","descriptor_name":"User-Computer Interface","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016247","descriptor_name":"Information Storage and Retrieval","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D016247","descriptor_name":"Information Storage and Retrieval","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D016247","descriptor_name":"Information Storage and Retrieval","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D018511","descriptor_name":"Systems Integration","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018511","descriptor_name":"Systems Integration","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018511","descriptor_name":"Systems Integration","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019411","descriptor_name":"Clinical Laboratory Techniques","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019411","descriptor_name":"Clinical Laboratory Techniques","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019411","descriptor_name":"Clinical Laboratory Techniques","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1093/bioinformatics/btm365","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btm365","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/23/18/2504/49816587/bioinformatics_23_18_2504.pdf","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"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":"Bioinformatics","raw_type":"journal-article"},{"id":"pmid:17709339","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/17709339","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":"Bioinformatics (Oxford, England)","raw_type":null}],"best_oa_location":{"id":"doi:10.1093/bioinformatics/btm365","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btm365","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/23/18/2504/49816587/bioinformatics_23_18_2504.pdf","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"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":"Bioinformatics","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.550000011920929,"display_name":"Industry, innovation and infrastructure","id":"https://metadata.un.org/sdg/9"}],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2130915401.pdf","grobid_xml":"https://content.openalex.org/works/W2130915401.grobid-xml"},"referenced_works_count":5,"referenced_works":["https://openalex.org/W54298579","https://openalex.org/W2010846210","https://openalex.org/W2076226228","https://openalex.org/W2092235740","https://openalex.org/W2462104217"],"related_works":["https://openalex.org/W1981780420","https://openalex.org/W2182707996","https://openalex.org/W45233828","https://openalex.org/W2964988449","https://openalex.org/W188202134","https://openalex.org/W2397952901","https://openalex.org/W2029380707","https://openalex.org/W4255934811","https://openalex.org/W2465382974","https://openalex.org/W2010229520"],"abstract_inverted_index":{"UNLABELLED:":[0],"High":[1],"throughput":[2,44],"mutation":[3,47,108,179],"screening":[4,109,180],"in":[5],"an":[6],"automated":[7,107],"environment":[8],"generates":[9],"large":[10],"data":[11,30,101],"sets":[12],"that":[13,51,118],"have":[14,33],"to":[15,42,73],"be":[16],"organized":[17],"and":[18,28,49,65,81,93,97,149,171,177],"stored":[19],"reliably.":[20],"Complex":[21],"multistep":[22],"workflows":[23],"require":[24],"strict":[25],"process":[26,130],"management":[27],"careful":[29],"tracking.":[31],"We":[32],"developed":[34],"a":[35,57,125,139],"Laboratory":[36],"Information":[37],"Management":[38],"Systems":[39],"(LIMS)":[40],"tailored":[41],"high":[43],"candidate":[45],"gene":[46],"scanning":[48],"resequencing":[50],"respects":[52],"these":[53],"requirements.":[54],"Designed":[55],"with":[56,87],"client/server":[58],"architecture,":[59],"our":[60,106,115,161,185],"system":[61],"is":[62,117,134],"platform":[63],"independent":[64],"based":[66],"on":[67,136,160,174,184],"open-source":[68],"tools":[69],"from":[70,138],"the":[71,74,83,90,129,153,175,178],"database":[72,146,169],"web":[75],"application":[76,156],"development":[77],"strategy.":[78],"Flexible,":[79],"expandable":[80],"secure,":[82],"LIMS,":[84],"by":[85],"communicating":[86],"most":[88],"of":[89,105,114,122,152],"laboratory":[91,98,126],"instruments":[92],"robots,":[94],"tracks":[95],"samples":[96],"information,":[99],"capturing":[100],"at":[102,131],"every":[103],"step":[104,133],"workflow.":[110],"An":[111],"important":[112],"feature":[113],"LIMS":[116,176],"it":[119],"enables":[120],"tracking":[121],"information":[123],"through":[124],"workflow":[127,181],"where":[128],"one":[132],"contingent":[135],"results":[137],"previous":[140],"step.":[141],"AVAILABILITY:":[142],"Script":[143],"for":[144],"MySQL":[145],"table":[147],"creation":[148],"source":[150],"code":[151],"whole":[154],"JSP":[155],"are":[157,182],"freely":[158],"available":[159,183],"website:":[162,186],"http://www-gcs.iarc.fr/lims/.":[163],"SUPPLEMENTARY":[164],"INFORMATION:":[165],"System":[166],"server":[167],"configuration,":[168],"structure":[170],"additional":[172],"details":[173],"http://www-gcs.iarc.fr/lims/":[187]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":1},{"year":2014,"cited_by_count":3},{"year":2013,"cited_by_count":3},{"year":2012,"cited_by_count":2}],"updated_date":"2026-06-16T07:32:37.131356","created_date":"2025-10-10T00:00:00"}
