{"id":"https://openalex.org/W2181732059","doi":null,"title":"OPTIMIZATION OF HETERODUPLEX ANALYSIS FOR THE DETECTION OF BRCA MUTATIONS AND SNPs","display_name":"OPTIMIZATION OF HETERODUPLEX ANALYSIS FOR THE DETECTION OF BRCA MUTATIONS AND SNPs","publication_year":2010,"publication_date":"2010-02-03","ids":{"openalex":"https://openalex.org/W2181732059","mag":"2181732059"},"language":"ro","primary_location":{"id":"pmh:oai:doaj.org/article:515519e2e5474bb686cae515ec3a0cc0","doi":null,"is_oa":false,"landing_page_url":"https://doaj.org/article/515519e2e5474bb686cae515ec3a0cc0","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Analele \u015etiin\u0163ifice Ale Universit\u0103\u0163ii Alexandru Ioan Cuza din Ia\u0219i,Sectiunea II A : Genetica si Biologie Moleculara , Vol 12, Iss 1 (2011)","raw_type":"article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["doaj"],"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/A5030597673","display_name":"Lucian Negur\u0103","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Lucian Negur\u0103","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000758452","display_name":"Dragos Peptanariu","orcid":"https://orcid.org/0000-0001-8108-3765","observed_orcids":["https://orcid.org/0000-0001-8108-3765"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Dragos Peptanariu","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0001-8108-3765","affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084399877","display_name":"Anca Negur\u0103","orcid":"https://orcid.org/0000-0002-1230-0196","observed_orcids":["https://orcid.org/0000-0002-1230-0196"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Anca Negur\u0103","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0002-1230-0196","affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073066771","display_name":"Eugen Carasievici","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Eugen Carasievici","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5036082255","display_name":"Coneac Andrei","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Coneac Andrei","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5036268776","display_name":"Eugen Ungureanu","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Eugen Ungureanu","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"12","issue":"1","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10769","display_name":"BRCA gene mutations in cancer","score":1.0,"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/T10769","display_name":"BRCA gene mutations in cancer","score":1.0,"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/T11369","display_name":"Genetic factors in colorectal cancer","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2734","display_name":"Pathology and Forensic Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.0,"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/heteroduplex-analysis","display_name":"heteroduplex analysis","score":0.9039999842643738},{"id":"https://openalex.org/keywords/brca1","display_name":"BRCA1","score":0.8199999928474426},{"id":"https://openalex.org/keywords/brca2","display_name":"BRCA2","score":0.9980000257492065},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphisms","display_name":"single nucleotide polymorphisms","score":0.8059999942779541},{"id":"https://openalex.org/keywords/brca-mutations","display_name":"BRCA mutations","score":0.7889999747276306},{"id":"https://openalex.org/keywords/hereditary-breast-and-ovarian-cancer-syndrome","display_name":"hereditary breast and ovarian cancer","score":0.9039999842643738},{"id":"https://openalex.org/keywords/genetic-counseling","display_name":"genetic counseling","score":0.4399999976158142},{"id":"https://openalex.org/keywords/mutation-detection-sensitivity-and-specificity","display_name":"mutation detection sensitivity and specificity","score":0.5960000157356262}],"concepts":[{"id":"https://openalex.org/C134494468","wikidata":"https://www.wikidata.org/wiki/Q408140","display_name":"Heteroduplex","level":3,"score":0.86822110414505},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6633740663528442},{"id":"https://openalex.org/C8185291","wikidata":"https://www.wikidata.org/wiki/Q2844457","display_name":"Amplicon","level":4,"score":0.5905615091323853},{"id":"https://openalex.org/C76818968","wikidata":"https://www.wikidata.org/wiki/Q181940","display_name":"Sanger sequencing","level":4,"score":0.5304350852966309},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.5299994349479675},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5146685242652893},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.4361754357814789},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4205835461616516},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.3521103858947754},{"id":"https://openalex.org/C49105822","wikidata":"https://www.wikidata.org/wiki/Q176996","display_name":"Polymerase chain reaction","level":3,"score":0.24853956699371338},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.18000638484954834}],"mesh":[],"locations_count":3,"locations":[{"id":"pmh:oai:doaj.org/article:515519e2e5474bb686cae515ec3a0cc0","doi":null,"is_oa":false,"landing_page_url":"https://doaj.org/article/515519e2e5474bb686cae515ec3a0cc0","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Analele \u015etiin\u0163ifice Ale Universit\u0103\u0163ii Alexandru Ioan Cuza din Ia\u0219i,Sectiunea II A : Genetica si Biologie Moleculara , Vol 12, Iss 1 (2011)","raw_type":"article"},{"id":"pmh:oai:ojs2.www.gbm.bio.uaic.ro:article/1076","doi":null,"is_oa":false,"landing_page_url":"http://gbm.bio.uaic.ro/index.php/gbm/article/view/1076","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Analele Stiintifice ale Universitatii Alexandru Ioan Cuza din Iasi, Sectiunea II A : Genetica si Biologie Moleculara; Vol 12 No 1","raw_type":"info:eu-repo/semantics/article"},{"id":"mag:2181732059","doi":null,"is_oa":false,"landing_page_url":"http://www.bio.uaic.ro/publicatii/anale_biochimie/DATA/ARCHIVE/PAPERS/2011/1/3_Negura.pdf","pdf_url":null,"source":{"id":"https://openalex.org/S4306501893","display_name":"Analele Stiintifice ale Universitatii \"Alexandru Ioan Cuza\"  din Iasi  Sec. II a. Genetica si Biologie Moleculara","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"Analele Stiintifice ale Universitatii \"Alexandru Ioan Cuza\" din Iasi Sec. II a. Genetica si Biologie Moleculara","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.6240000128746033}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":4,"referenced_works":["https://openalex.org/W2030093162","https://openalex.org/W2095824731","https://openalex.org/W2138312420","https://openalex.org/W2150111967"],"related_works":["https://openalex.org/W7015037001","https://openalex.org/W1539403786","https://openalex.org/W2140370011","https://openalex.org/W2043769043","https://openalex.org/W2037168479","https://openalex.org/W90103378","https://openalex.org/W2133057731","https://openalex.org/W2044306030","https://openalex.org/W2005682952","https://openalex.org/W2017474271"],"abstract_inverted_index":{"BRCA1":[0,149],"and":[1,13,29,36,40,66,86,92,97,117,133],"BRCA2":[2],"are":[3],"tumour":[4],"suppressor":[5],"genes":[6,21,61],"whose":[7],"mutant":[8],"phenotypes":[9],"predispose":[10],"to":[11,44,70,74,120],"breast":[12,28],"ovarian":[14,30],"cancer.":[15],"Screening":[16],"for":[17,26,81,102],"mutations":[18,85,144],"in":[19,34,49,94],"these":[20],"is":[22],"now":[23],"standard":[24],"practice":[25],"hereditary":[27],"cancer":[31],"(HBOC)":[32],"cases":[33],"Europe,":[35],"permits":[37],"medical":[38],"follow-up":[39],"genetic":[41],"counselling":[42],"adapted":[43],"the":[45,59,82,107,125,140,148],"needs":[46],"of":[47,58,64,84,124,142],"individuals":[48],"such":[50],"families.":[51],"Currently,":[52],"most":[53],"laboratories":[54],"performing":[55],"diagnostic":[56],"analysis":[57,154],"BRCA":[60,126],"use":[62],"PCR":[63],"exons":[65],"intron-exon":[67],"boundaries":[68],"coupled":[69],"a":[71,100,115],"pre-screening":[72,103],"step":[73],"identify":[75],"anomalous":[76,122],"amplicons.":[77],"The":[78],"techniques":[79],"employed":[80],"detection":[83,141],"SNPs":[87,146],"have":[88],"evolved":[89],"over":[90],"time":[91],"vary":[93],"sensitivity,":[95],"specificity":[96],"cost-effectiveness.":[98],"As":[99],"variant":[101],"techniques,":[104],"we":[105,138],"chose":[106],"recently":[108],"developed":[109],"Surveyor\u00ae":[110],"heteroduplex":[111,153],"cleavage":[112],"method":[113],"as":[114],"sensitive":[116],"specific":[118],"technique":[119],"reveal":[121],"amplicons":[123],"genes,":[127],"using":[128,152],"only":[129],"basic":[130],"laboratory":[131],"equipment":[132],"agarose":[134],"gel":[135],"electrophoresis.":[136],"Here":[137],"present":[139],"either":[143],"or":[145],"within":[147],"exon":[150],"7,":[151],"(HA)":[155],"by":[156,160],"mismatch-specific":[157],"endonuclease,":[158],"confirmed":[159],"dideoxy":[161],"sequencing.":[162]},"counts_by_year":[],"updated_date":"2026-08-26T07:47:46.906454","created_date":"2016-06-24T00:00:00"}
