{"id":"https://openalex.org/W1688779689","doi":"https://doi.org/10.1186/1471-2105-14-s1-s9","title":"SNPranker 2.0: a gene-centric data mining tool for diseases associated SNP prioritization in GWAS","display_name":"SNPranker 2.0: a gene-centric data mining tool for diseases associated SNP prioritization in GWAS","publication_year":2013,"publication_date":"2013-01-01","ids":{"openalex":"https://openalex.org/W1688779689","doi":"https://doi.org/10.1186/1471-2105-14-s1-s9","mag":"1688779689","pmid":"https://pubmed.ncbi.nlm.nih.gov/23369106"},"language":"en","primary_location":{"id":"doi:10.1186/1471-2105-14-s1-s9","is_oa":true,"landing_page_url":"https://doi.org/10.1186/1471-2105-14-s1-s9","pdf_url":"https://bmcbioinformatics.biomedcentral.com/track/pdf/10.1186/1471-2105-14-S1-S9","source":{"id":"https://openalex.org/S19032547","display_name":"BMC Bioinformatics","issn_l":"1471-2105","issn":["1471-2105"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Bioinformatics","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://bmcbioinformatics.biomedcentral.com/track/pdf/10.1186/1471-2105-14-S1-S9","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5026770450","display_name":"Ivan Merelli","orcid":"https://orcid.org/0000-0003-3587-3680"},"institutions":[{"id":"https://openalex.org/I4210154278","display_name":"Institute of Biomedical Technologies","ror":"https://ror.org/04ehykb85","country_code":"IT","type":"facility","lineage":["https://openalex.org/I4210154278","https://openalex.org/I4210155236"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Ivan Merelli","raw_affiliation_strings":["Consiglio Nazionale delle Ricerche - Istituto di Tecnologie Biomediche (CNR-ITB), Via F,lli Cervi 93, 20090 Segrate (MI), Italy","Consiglio Nazionale delle Ricerche, Istituto di Tecnologie Biomediche (CNR-ITB), Via F.lli Cervi 93, 20090, Segrate (MI), Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Consiglio Nazionale delle Ricerche - Istituto di Tecnologie Biomediche (CNR-ITB), Via F,lli Cervi 93, 20090 Segrate (MI), Italy","institution_ids":["https://openalex.org/I4210154278"]},{"raw_affiliation_string":"Consiglio Nazionale delle Ricerche, Istituto di Tecnologie Biomediche (CNR-ITB), Via F.lli Cervi 93, 20090, Segrate (MI), Italy","institution_ids":["https://openalex.org/I4210154278"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031944701","display_name":"Andrea Calabria","orcid":"https://orcid.org/0000-0003-3515-3384"},"institutions":[{"id":"https://openalex.org/I4210142418","display_name":"The San Raffaele Telethon Institute for Gene Therapy","ror":"https://ror.org/036jn4298","country_code":"IT","type":"facility","lineage":["https://openalex.org/I4210133214","https://openalex.org/I4210142418","https://openalex.org/I4210153126","https://openalex.org/I4210154366"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Andrea Calabria","raw_affiliation_strings":["San Raffaele Telethon Institute for Gene Therapy (HSR-TIGET), Via Olgettina 58, 20132, Milano, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"San Raffaele Telethon Institute for Gene Therapy (HSR-TIGET), Via Olgettina 58, 20132, Milano, Italy","institution_ids":["https://openalex.org/I4210142418"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067286039","display_name":"Paolo Cozzi","orcid":"https://orcid.org/0000-0003-0388-6874"},"institutions":[{"id":"https://openalex.org/I2799613648","display_name":"Parco Tecnologico Padano","ror":"https://ror.org/05bamms85","country_code":"IT","type":"archive","lineage":["https://openalex.org/I2799613648"]},{"id":"https://openalex.org/I4210154278","display_name":"Institute of Biomedical Technologies","ror":"https://ror.org/04ehykb85","country_code":"IT","type":"facility","lineage":["https://openalex.org/I4210154278","https://openalex.org/I4210155236"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Paolo Cozzi","raw_affiliation_strings":["Consiglio Nazionale delle Ricerche, Istituto di Tecnologie Biomediche (CNR-ITB), Via F.lli Cervi 93, 20090, Segrate (MI), Italy","Parco Tecnologico Padano, Via Einstein - Loc. Cascina Codazza, 26900, Lodi, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Consiglio Nazionale delle Ricerche, Istituto di Tecnologie Biomediche (CNR-ITB), Via F.lli Cervi 93, 20090, Segrate (MI), Italy","institution_ids":["https://openalex.org/I4210154278"]},{"raw_affiliation_string":"Parco Tecnologico Padano, Via Einstein - Loc. Cascina Codazza, 26900, Lodi, Italy","institution_ids":["https://openalex.org/I2799613648"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5038797492","display_name":"Federica Viti","orcid":"https://orcid.org/0000-0002-9651-8896"},"institutions":[{"id":"https://openalex.org/I4210154278","display_name":"Institute of Biomedical Technologies","ror":"https://ror.org/04ehykb85","country_code":"IT","type":"facility","lineage":["https://openalex.org/I4210154278","https://openalex.org/I4210155236"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Federica Viti","raw_affiliation_strings":["Consiglio Nazionale delle Ricerche, Istituto di Tecnologie Biomediche (CNR-ITB), Via F.lli Cervi 93, 20090, Segrate (MI), Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Consiglio Nazionale delle Ricerche, Istituto di Tecnologie Biomediche (CNR-ITB), Via F.lli Cervi 93, 20090, Segrate (MI), Italy","institution_ids":["https://openalex.org/I4210154278"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084198389","display_name":"Ettore Mosca","orcid":"https://orcid.org/0000-0002-3102-5150"},"institutions":[{"id":"https://openalex.org/I4210154278","display_name":"Institute of Biomedical Technologies","ror":"https://ror.org/04ehykb85","country_code":"IT","type":"facility","lineage":["https://openalex.org/I4210154278","https://openalex.org/I4210155236"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Ettore Mosca","raw_affiliation_strings":["Consiglio Nazionale delle Ricerche, Istituto di Tecnologie Biomediche (CNR-ITB), Via F.lli Cervi 93, 20090, Segrate (MI), Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Consiglio Nazionale delle Ricerche, Istituto di Tecnologie Biomediche (CNR-ITB), Via F.lli Cervi 93, 20090, Segrate (MI), Italy","institution_ids":["https://openalex.org/I4210154278"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5088629765","display_name":"Luciano Milanesi","orcid":"https://orcid.org/0000-0002-1201-3939"},"institutions":[{"id":"https://openalex.org/I4210154278","display_name":"Institute of Biomedical Technologies","ror":"https://ror.org/04ehykb85","country_code":"IT","type":"facility","lineage":["https://openalex.org/I4210154278","https://openalex.org/I4210155236"]}],"countries":["IT"],"is_corresponding":true,"raw_author_name":"Luciano Milanesi","raw_affiliation_strings":["Consiglio Nazionale delle Ricerche, Istituto di Tecnologie Biomediche (CNR-ITB), Via F.lli Cervi 93, 20090, Segrate (MI), Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Consiglio Nazionale delle Ricerche, Istituto di Tecnologie Biomediche (CNR-ITB), Via F.lli Cervi 93, 20090, Segrate (MI), Italy","institution_ids":["https://openalex.org/I4210154278"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5088629765"],"corresponding_institution_ids":["https://openalex.org/I4210154278"],"apc_list":{"value":2790,"currency":"USD","value_usd":2790},"apc_paid":{"value":2790,"currency":"USD","value_usd":2790},"fwci":2.5305,"has_fulltext":true,"cited_by_count":28,"citation_normalized_percentile":{"value":0.88982996,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":90,"max":98},"biblio":{"volume":"14","issue":"S1","first_page":"S9","last_page":"S9"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.44679999351501465,"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":0.44679999351501465,"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":0.3246999979019165,"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/T11710","display_name":"Biomedical Text Mining and Ontologies","score":0.14499999582767487,"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/genome-wide-association-study","display_name":"Genome-wide association study","score":0.670654833316803},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.6047155857086182},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphism","display_name":"Single-nucleotide polymorphism","score":0.5786860585212708},{"id":"https://openalex.org/keywords/snp","display_name":"SNP","score":0.5761575102806091},{"id":"https://openalex.org/keywords/snp-genotyping","display_name":"SNP genotyping","score":0.5356656312942505},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.5046542882919312},{"id":"https://openalex.org/keywords/classifier","display_name":"Classifier (UML)","score":0.45650678873062134},{"id":"https://openalex.org/keywords/genetic-association","display_name":"Genetic association","score":0.4514545202255249},{"id":"https://openalex.org/keywords/genotyping","display_name":"Genotyping","score":0.4429779052734375},{"id":"https://openalex.org/keywords/annotation","display_name":"Annotation","score":0.43926316499710083},{"id":"https://openalex.org/keywords/dna-microarray","display_name":"DNA microarray","score":0.43117645382881165},{"id":"https://openalex.org/keywords/data-mining","display_name":"Data mining","score":0.42829763889312744},{"id":"https://openalex.org/keywords/set","display_name":"Set (abstract data type)","score":0.4191131591796875},{"id":"https://openalex.org/keywords/identification","display_name":"Identification (biology)","score":0.4111533761024475},{"id":"https://openalex.org/keywords/artificial-intelligence","display_name":"Artificial intelligence","score":0.27999094128608704},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.26727479696273804},{"id":"https://openalex.org/keywords/genotype","display_name":"Genotype","score":0.2482626736164093},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.23645633459091187},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.19256606698036194}],"concepts":[{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.670654833316803},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.6047155857086182},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.5786860585212708},{"id":"https://openalex.org/C139275648","wikidata":"https://www.wikidata.org/wiki/Q17134011","display_name":"SNP","level":5,"score":0.5761575102806091},{"id":"https://openalex.org/C163691529","wikidata":"https://www.wikidata.org/wiki/Q7391886","display_name":"SNP genotyping","level":5,"score":0.5356656312942505},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5046542882919312},{"id":"https://openalex.org/C95623464","wikidata":"https://www.wikidata.org/wiki/Q1096149","display_name":"Classifier (UML)","level":2,"score":0.45650678873062134},{"id":"https://openalex.org/C186413461","wikidata":"https://www.wikidata.org/wiki/Q744727","display_name":"Genetic association","level":5,"score":0.4514545202255249},{"id":"https://openalex.org/C31467283","wikidata":"https://www.wikidata.org/wiki/Q912147","display_name":"Genotyping","level":4,"score":0.4429779052734375},{"id":"https://openalex.org/C2776321320","wikidata":"https://www.wikidata.org/wiki/Q857525","display_name":"Annotation","level":2,"score":0.43926316499710083},{"id":"https://openalex.org/C95371953","wikidata":"https://www.wikidata.org/wiki/Q591745","display_name":"DNA microarray","level":4,"score":0.43117645382881165},{"id":"https://openalex.org/C124101348","wikidata":"https://www.wikidata.org/wiki/Q172491","display_name":"Data mining","level":1,"score":0.42829763889312744},{"id":"https://openalex.org/C177264268","wikidata":"https://www.wikidata.org/wiki/Q1514741","display_name":"Set (abstract data type)","level":2,"score":0.4191131591796875},{"id":"https://openalex.org/C116834253","wikidata":"https://www.wikidata.org/wiki/Q2039217","display_name":"Identification (biology)","level":2,"score":0.4111533761024475},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.27999094128608704},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.26727479696273804},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.2482626736164093},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.23645633459091187},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.19256606698036194},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.0},{"id":"https://openalex.org/C59822182","wikidata":"https://www.wikidata.org/wiki/Q441","display_name":"Botany","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}],"mesh":[{"descriptor_ui":"D004194","descriptor_name":"Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004194","descriptor_name":"Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004194","descriptor_name":"Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004194","descriptor_name":"Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005796","descriptor_name":"Genes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005796","descriptor_name":"Genes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005796","descriptor_name":"Genes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005796","descriptor_name":"Genes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"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":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D020407","descriptor_name":"Internet","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020407","descriptor_name":"Internet","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020407","descriptor_name":"Internet","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020407","descriptor_name":"Internet","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D057225","descriptor_name":"Data Mining","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D057225","descriptor_name":"Data Mining","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D057225","descriptor_name":"Data Mining","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D057225","descriptor_name":"Data Mining","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1186/1471-2105-14-s1-s9","is_oa":true,"landing_page_url":"https://doi.org/10.1186/1471-2105-14-s1-s9","pdf_url":"https://bmcbioinformatics.biomedcentral.com/track/pdf/10.1186/1471-2105-14-S1-S9","source":{"id":"https://openalex.org/S19032547","display_name":"BMC Bioinformatics","issn_l":"1471-2105","issn":["1471-2105"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Bioinformatics","raw_type":"journal-article"},{"id":"pmid:23369106","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/23369106","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":"BMC bioinformatics","raw_type":null},{"id":"pmh:oai:europepmc.org:2563959","is_oa":true,"landing_page_url":"http://europepmc.org/articles/PMC3548692","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:3548692","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3548692","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"BMC Bioinformatics","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1186/1471-2105-14-s1-s9","is_oa":true,"landing_page_url":"https://doi.org/10.1186/1471-2105-14-s1-s9","pdf_url":"https://bmcbioinformatics.biomedcentral.com/track/pdf/10.1186/1471-2105-14-S1-S9","source":{"id":"https://openalex.org/S19032547","display_name":"BMC Bioinformatics","issn_l":"1471-2105","issn":["1471-2105"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Bioinformatics","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/9","score":0.41999998688697815,"display_name":"Industry, innovation and infrastructure"}],"awards":[{"id":"https://openalex.org/G2130338104","display_name":null,"funder_award_id":"RBPR05ZK2Z","funder_id":"https://openalex.org/F4320321873","funder_display_name":"Ministero dell\u2019Istruzione, dell\u2019Universit\u00e0 e della Ricerca"},{"id":"https://openalex.org/G2400314220","display_name":null,"funder_award_id":"RBAP11YS7K","funder_id":"https://openalex.org/F4320321873","funder_display_name":"Ministero dell\u2019Istruzione, dell\u2019Universit\u00e0 e della Ricerca"}],"funders":[{"id":"https://openalex.org/F4320321873","display_name":"Ministero dell\u2019Istruzione, dell\u2019Universit\u00e0 e della Ricerca","ror":"https://ror.org/0166hxq48"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W1688779689.pdf","grobid_xml":"https://content.openalex.org/works/W1688779689.grobid-xml"},"referenced_works_count":58,"referenced_works":["https://openalex.org/W184793361","https://openalex.org/W206155369","https://openalex.org/W1518105100","https://openalex.org/W1572772177","https://openalex.org/W1606938841","https://openalex.org/W1659833910","https://openalex.org/W1977902828","https://openalex.org/W1985849948","https://openalex.org/W1999895438","https://openalex.org/W2001519777","https://openalex.org/W2006770045","https://openalex.org/W2044527070","https://openalex.org/W2051706061","https://openalex.org/W2065292076","https://openalex.org/W2083492263","https://openalex.org/W2096525273","https://openalex.org/W2097210466","https://openalex.org/W2098740506","https://openalex.org/W2100428244","https://openalex.org/W2100935296","https://openalex.org/W2103017472","https://openalex.org/W2105099387","https://openalex.org/W2107889007","https://openalex.org/W2108514550","https://openalex.org/W2109555487","https://openalex.org/W2109872885","https://openalex.org/W2110065044","https://openalex.org/W2111937809","https://openalex.org/W2115722228","https://openalex.org/W2117446594","https://openalex.org/W2121343862","https://openalex.org/W2124649657","https://openalex.org/W2127640118","https://openalex.org/W2128049108","https://openalex.org/W2133592815","https://openalex.org/W2136078375","https://openalex.org/W2137633946","https://openalex.org/W2138891742","https://openalex.org/W2141513271","https://openalex.org/W2142598435","https://openalex.org/W2149385661","https://openalex.org/W2150144517","https://openalex.org/W2155635136","https://openalex.org/W2161062388","https://openalex.org/W2163485494","https://openalex.org/W2169823080","https://openalex.org/W2171437346","https://openalex.org/W2172135976","https://openalex.org/W2189353423","https://openalex.org/W2276605232","https://openalex.org/W2582743722","https://openalex.org/W2628074563","https://openalex.org/W4211000692","https://openalex.org/W4232206377","https://openalex.org/W4250297812","https://openalex.org/W4253309163","https://openalex.org/W4285719527","https://openalex.org/W4319780061"],"related_works":["https://openalex.org/W2414446413","https://openalex.org/W2331649876","https://openalex.org/W1504890006","https://openalex.org/W2783076127","https://openalex.org/W2026621123","https://openalex.org/W2066467839","https://openalex.org/W2594299395","https://openalex.org/W2111842731","https://openalex.org/W2101398264","https://openalex.org/W2170506381"],"abstract_inverted_index":{"BACKGROUND:":[0],"The":[1,166],"capability":[2],"of":[3,16,49,62,72,85,95,100,113,143,175,187,190,235,257,266,269,292],"correlating":[4],"specific":[5,58],"genotypes":[6],"with":[7,282,302],"human":[8],"diseases":[9],"is":[10,69],"a":[11,47,57,63,66,93,114,129,179,188,217,245,267,273,290,338,358],"complex":[12],"issue":[13,68],"in":[14,110,117,138,348,355],"spite":[15],"all":[17],"advantages":[18],"arisen":[19],"from":[20],"high-throughput":[21],"technologies,":[22],"such":[23,345],"as":[24,60,195,244,346],"Genome":[25],"Wide":[26],"Association":[27],"Studies":[28],"(GWAS).":[29],"New":[30],"tools":[31],"for":[32,37,158,314,361,379],"genetic":[33,88],"variants":[34],"interpretation":[35,142,365],"and":[36,141,161,197,210,226,276,297,309,351,364,383],"Single":[38],"Nucleotide":[39],"Polymorphisms":[40],"(SNPs)":[41],"prioritization":[42,304],"are":[43,75,311,373],"actually":[44],"needed.":[45],"Given":[46],"list":[48,94,268,291],"the":[50,70,79,83,86,111,121,139,172,185,200,233,236,264,279],"most":[51],"relevant":[52],"SNPs":[53,106,144,271,315,324,369,377],"statistically":[54],"associated":[55,145],"to":[56,78,103,119,133,146,153,162,221,231,277,333,367],"pathology":[59],"result":[61],"genotype":[64],"study,":[65],"critical":[67],"identification":[71],"genes":[73],"that":[74],"effectively":[76],"related":[77],"disease":[80],"by":[81,213],"re-scoring":[82],"importance":[84,102],"identified":[87],"variations.":[89],"Vice":[90],"versa,":[91],"given":[92],"genes,":[96,270,300],"it":[97],"can":[98,107,150],"be":[99,108,151],"great":[101],"predict":[104],"which":[105,204],"involved":[109],"onset":[112],"particular":[115],"disease,":[116],"order":[118],"focus":[120],"research":[122],"on":[123,171,184,199,326],"their":[124,303],"effects.":[125],"RESULTS:":[126],"We":[127,215,240],"propose":[128],"new":[130,359],"bioinformatics":[131],"approach":[132],"support":[134,368],"biological":[135,274],"data":[136,173,362,375],"mining":[137,363],"analysis":[140],"pathologies.":[147],"This":[148],"system":[149],"employed":[152,216],"design":[154],"custom":[155,380],"genotyping":[156,381],"chips":[157],"disease-oriented":[159],"studies":[160],"re-score":[163,323],"GWAS":[164,374],"results.":[165],"proposed":[167],"method":[168,243],"relies":[169],"(1)":[170],"integration":[174],"public":[176],"resources":[177,310],"using":[178,208],"gene-centric":[180],"database":[181],"design,":[182],"(2)":[183],"evaluation":[186],"set":[189,212,222,281],"static":[191],"biomolecular":[192,328],"annotations,":[193],"defined":[194],"features,":[196],"(3)":[198],"SNP":[201,206],"scoring":[202],"function,":[203],"computes":[205],"scores":[207],"parameters":[209],"weights":[211,225],"users.":[214],"machine":[218],"learning":[219],"classifier":[220],"default":[223],"feature":[224],"an":[227],"ontological":[228],"annotation":[229],"layer":[230],"enable":[232],"enrichment":[234],"input":[237,265,296],"gene":[238],"set.":[239],"implemented":[241],"our":[242,253],"web":[246,341],"tool":[247,360],"called":[248],"SNPranker":[249,287,330,356],"2.0":[250,288,331,357],"(http://www.itb.cnr.it/snpranker),":[251],"improving":[252],"first":[254],"published":[255],"release":[256],"this":[258,335],"system.":[259],"A":[260],"user-friendly":[261,339],"interface":[262],"allows":[263],"or":[272,322],"process,":[275],"customize":[278],"features":[280],"relative":[283],"weights.":[284],"As":[285],"result,":[286],"returns":[289],"SNPs,":[293],"localized":[294],"within":[295],"ontologically":[298],"enriched":[299],"combined":[301],"scores.":[305],"CONCLUSIONS:":[306],"Different":[307],"databases":[308],"already":[312],"available":[313],"annotation,":[316],"but":[317],"they":[318],"do":[319],"not":[320],"prioritize":[321],"relying":[325],"a-priori":[327],"knowledge.":[329],"attempts":[332],"fill":[334],"gap":[336],"through":[337],"integrated":[340],"resource.":[342],"End":[343],"users,":[344],"researchers":[347],"medical":[349],"genetics":[350],"epidemiology,":[352],"may":[353],"find":[354],"able":[366],"analysis.":[370],"Possible":[371],"scenarios":[372],"re-scoring,":[376],"selection":[378],"arrays":[382],"SNPs/diseases":[384],"association":[385],"studies.":[386]},"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":5},{"year":2016,"cited_by_count":3},{"year":2015,"cited_by_count":2},{"year":2014,"cited_by_count":5},{"year":2013,"cited_by_count":2}],"updated_date":"2026-07-23T08:03:31.855105","created_date":"2025-10-10T00:00:00"}
