{"id":"https://openalex.org/W2170092324","doi":null,"title":"New generation genomic platforms in investigation of complex diseases and BEN.","display_name":"New generation genomic platforms in investigation of complex diseases and BEN.","publication_year":2014,"publication_date":"2014-01-01","ids":{"openalex":"https://openalex.org/W2170092324","mag":"2170092324","pmid":"https://pubmed.ncbi.nlm.nih.gov/24798593"},"language":"en","primary_location":{"id":"pmid:24798593","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/24798593","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,"listed_in":[],"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":"Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki)","raw_type":"Journal Article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["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/A5060572948","display_name":"Ivanka Istalianova Dimova","orcid":"https://orcid.org/0000-0003-4091-9604","observed_orcids":["https://orcid.org/0000-0003-4091-9604"]},"institutions":[{"id":"https://openalex.org/I30147112","display_name":"Medical University of Sofia","ror":"https://ror.org/01n9zy652","country_code":"BG","type":"education","lineage":["https://openalex.org/I30147112"]}],"countries":["BG"],"is_corresponding":false,"raw_author_name":"Ivanka Dimova","raw_affiliation_strings":["Department of Medical Genetics, Medical University, Sofia, Bulgaria"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Medical University, Sofia, Bulgaria","institution_ids":["https://openalex.org/I30147112"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5001788457","display_name":"Stoyan Lalchev","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I30147112","display_name":"Medical University of Sofia","ror":"https://ror.org/01n9zy652","country_code":"BG","type":"education","lineage":["https://openalex.org/I30147112"]}],"countries":["BG"],"is_corresponding":false,"raw_author_name":"Stoyan Lalchev","raw_affiliation_strings":["Department of Medical Genetics, Medical University, Sofia, Bulgaria"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Medical University, Sofia, Bulgaria","institution_ids":["https://openalex.org/I30147112"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045140451","display_name":"M. Malinov","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Maksim Malinov","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062544738","display_name":"Valentin Djonov","orcid":"https://orcid.org/0000-0002-5062-1169","observed_orcids":["https://orcid.org/0000-0002-5062-1169","https://orcid.org/0000-0003-0529-9665"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Valentin Djonov","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5006838317","display_name":"Draga Ivanova Toncheva","orcid":"https://orcid.org/0000-0002-7451-6363","observed_orcids":["https://orcid.org/0000-0002-7451-6363"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Draga Toncheva","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"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":"35","issue":"1","first_page":"25","last_page":"33"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.6230000257492065,"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":0.6230000257492065,"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/T10261","display_name":"Genetic Associations and Epidemiology","score":0.15860000252723694,"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/T11029","display_name":"Renal Diseases and Glomerulopathies","score":0.0778999999165535,"subfield":{"id":"https://openalex.org/subfields/2727","display_name":"Nephrology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/balkan-endemic-nephropathy","display_name":"Balkan endemic nephropathy","score":0.9459999799728394},{"id":"https://openalex.org/keywords/complex-diseases","display_name":"complex diseases","score":0.9039999842643738},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphisms","display_name":"single nucleotide polymorphisms","score":0.9129999876022339},{"id":"https://openalex.org/keywords/copy-number-variation","display_name":"copy number variation","score":0.949999988079071},{"id":"https://openalex.org/keywords/loss-of-heterozygosity","display_name":"loss of heterozygosity","score":1.0},{"id":"https://openalex.org/keywords/snp-array","display_name":"SNP array","score":0.796999990940094},{"id":"https://openalex.org/keywords/next-generation-sequencing","display_name":"next-generation sequencing","score":0.9319999814033508},{"id":"https://openalex.org/keywords/familial-nephrotic-syndrome","display_name":"familial nephrotic syndrome","score":0.8989999890327454},{"id":"https://openalex.org/keywords/genetic-susceptibility","display_name":"genetic susceptibility","score":0.9039999842643738},{"id":"https://openalex.org/keywords/disease-screening","display_name":"disease screening","score":0.37400001287460327},{"id":"https://openalex.org/keywords/prevention","display_name":"prevention","score":0.5839999914169312}],"concepts":[{"id":"https://openalex.org/C164614171","wikidata":"https://www.wikidata.org/wiki/Q5204775","display_name":"DECIPHER","level":2,"score":0.7833265066146851},{"id":"https://openalex.org/C143589142","wikidata":"https://www.wikidata.org/wiki/Q2617554","display_name":"Loss of heterozygosity","level":4,"score":0.7281961441040039},{"id":"https://openalex.org/C139275648","wikidata":"https://www.wikidata.org/wiki/Q17134011","display_name":"SNP","level":5,"score":0.7076125144958496},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.704866886138916},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6271701455116272},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5793060660362244},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5667535066604614},{"id":"https://openalex.org/C120821319","wikidata":"https://www.wikidata.org/wiki/Q1501491","display_name":"Copy-number variation","level":4,"score":0.45987099409103394},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.4437868595123291},{"id":"https://openalex.org/C122060243","wikidata":"https://www.wikidata.org/wiki/Q7391885","display_name":"SNP array","level":5,"score":0.44111526012420654},{"id":"https://openalex.org/C189206191","wikidata":"https://www.wikidata.org/wiki/Q222046","display_name":"Genomics","level":4,"score":0.4350460171699524},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.306405246257782},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.23677900433540344},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.2152557075023651},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.1865224540233612}],"mesh":[{"descriptor_ui":"D001449","descriptor_name":"Balkan Nephropathy","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","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":"D020411","descriptor_name":"Oligonucleotide Array Sequence Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056915","descriptor_name":"DNA Copy Number Variations","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":3,"locations":[{"id":"pmid:24798593","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/24798593","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,"listed_in":[],"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":"Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki)","raw_type":"Journal Article"},{"id":"pmh:oai:boris.unibe.ch:54049","doi":null,"is_oa":false,"landing_page_url":"https://boris.unibe.ch/54049/","pdf_url":null,"source":{"id":"https://openalex.org/S4306401747","display_name":"BORIS (University Library Bern)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210103840","host_organization_name":"Nakuru County Council","host_organization_lineage":["https://openalex.org/I4210103840"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Dimova, I; Lalchev, S; Malinov, M; Djonov, Valentin; Toncheva, D (2014). New generation genomic platforms in investigation of complex diseases and BEN. Prilozi / Makedonska akademija na naukite i umetnostite, Oddelenie za biolo\u0161ki i medicinski nauki = Contributions / Macedonian Academy of Sciences and Arts, Section of Biological and Medical Sciences, 35(1), pp. 25-33.","raw_type":"info:eu-repo/semantics/article"},{"id":"mag:2170092324","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/24798593","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,"listed_in":[],"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":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9922999739646912,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":24,"referenced_works":["https://openalex.org/W1565136572","https://openalex.org/W1569353782","https://openalex.org/W1965522679","https://openalex.org/W1978195308","https://openalex.org/W1994458586","https://openalex.org/W1997689993","https://openalex.org/W1998641738","https://openalex.org/W1999478182","https://openalex.org/W2000462341","https://openalex.org/W2016060560","https://openalex.org/W2066669827","https://openalex.org/W2068136138","https://openalex.org/W2071047821","https://openalex.org/W2078034709","https://openalex.org/W2082536587","https://openalex.org/W2085755265","https://openalex.org/W2091203297","https://openalex.org/W2091943025","https://openalex.org/W2099343472","https://openalex.org/W2120264968","https://openalex.org/W2143303362","https://openalex.org/W2143600899","https://openalex.org/W2162674813","https://openalex.org/W7128161967"],"related_works":["https://openalex.org/W2994226759","https://openalex.org/W2023767508","https://openalex.org/W3093776512","https://openalex.org/W7095483044","https://openalex.org/W1771151945","https://openalex.org/W2132396206","https://openalex.org/W2416381301","https://openalex.org/W7216884428","https://openalex.org/W26847497","https://openalex.org/W7165024074"],"abstract_inverted_index":{"New":[0],"generation":[1],"genomic":[2,94],"platforms":[3,95],"enable":[4],"us":[5],"to":[6,77],"decipher":[7],"the":[8,50,73,78],"complex":[9,13],"genetic":[10],"basis":[11],"of":[12,40,53,66,100],"diseases":[14],"and":[15,45,71,96],"Balkan":[16],"Endemic":[17],"Nephropathy":[18],"(BEN)":[19],"at":[20],"a":[21,104],"high-throughput":[22],"basis.":[23],"They":[24,80],"give":[25],"valuable":[26],"information":[27,60],"about":[28,46],"predisposing":[29],"Single":[30],"Nucleotide":[31],"Polymorphisms":[32],"(SNPs),":[33],"Copy":[34],"Number":[35],"Variations":[36],"(CNVs)":[37],"or":[38],"Loss":[39],"Heterozygosity":[41],"(LOH)":[42],"(using":[43,55],"SNP-array)":[44],"disease-causing":[47],"mutations":[48],"along":[49],"whole":[51],"sequence":[52],"candidate-genes":[54],"Next":[56],"Generation":[57],"Sequencing).":[58],"This":[59],"could":[61],"be":[62],"used":[63],"for":[64],"screening":[65],"individuals":[67],"in":[68,103],"risk":[69],"families":[70],"moving":[72],"main":[74],"medicine":[75],"stream":[76],"prevention.":[79],"also":[81],"might":[82],"have":[83],"an":[84],"impact":[85],"on":[86],"more":[87],"effective":[88],"treatment.":[89],"Here":[90],"we":[91],"discuss":[92],"these":[93],"report":[97],"some":[98],"applications":[99],"SNP-array":[101],"technology":[102],"case":[105],"with":[106],"familial":[107],"nephrotic":[108],"syndrome.":[109]},"counts_by_year":[],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2016-06-24T00:00:00"}