{"id":"https://openalex.org/W2131164829","doi":"https://doi.org/10.1093/bioinformatics/btq378","title":"is-rSNP: a novel technique for<i>in silico</i>regulatory SNP detection","display_name":"is-rSNP: a novel technique for<i>in silico</i>regulatory SNP detection","publication_year":2010,"publication_date":"2010-09-04","ids":{"openalex":"https://openalex.org/W2131164829","doi":"https://doi.org/10.1093/bioinformatics/btq378","mag":"2131164829","pmid":"https://pubmed.ncbi.nlm.nih.gov/20823317"},"language":"en","primary_location":{"id":"doi:10.1093/bioinformatics/btq378","is_oa":false,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btq378","pdf_url":null,"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":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2935445","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5048069780","display_name":"Geoff Macintyre","orcid":"https://orcid.org/0000-0003-3906-467X"},"institutions":[{"id":"https://openalex.org/I142471025","display_name":"Baker Heart and Diabetes Institute","ror":"https://ror.org/03rke0285","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I142471025"]},{"id":"https://openalex.org/I165779595","display_name":"The University of Melbourne","ror":"https://ror.org/01ej9dk98","country_code":"AU","type":"education","lineage":["https://openalex.org/I165779595"]},{"id":"https://openalex.org/I2800555584","display_name":"Peter MacCallum Cancer Centre","ror":"https://ror.org/02a8bt934","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2800555584"]},{"id":"https://openalex.org/I42894916","display_name":"Data61","ror":"https://ror.org/03q397159","country_code":"AU","type":"other","lineage":["https://openalex.org/I1292875679","https://openalex.org/I2801453606","https://openalex.org/I42894916","https://openalex.org/I4387156119"]}],"countries":["AU"],"is_corresponding":true,"raw_author_name":"Geoff Macintyre","raw_affiliation_strings":["1 Department of Computer Science and Software Engineering, 2NICTA, Victoria Research Lab, The University of Melbourne, Victoria 3010, 3Bioinformatics and Systems Integration, The Blood and DNA Profiling Facility, Baker IDI Heart and Diabetes Institute, 75 Commercial Rd, Prahran, Victoria 3004, 4Metastasis Research Lab, Peter MacCallum Cancer Centre, St Andrews Place, East Melbourne, Victoria 3002 and 5Department of Biochemistry and Molecular Biology. The University of Melbourne, Victoria 3010, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1 Department of Computer Science and Software Engineering, 2NICTA, Victoria Research Lab, The University of Melbourne, Victoria 3010, 3Bioinformatics and Systems Integration, The Blood and DNA Profiling Facility, Baker IDI Heart and Diabetes Institute, 75 Commercial Rd, Prahran, Victoria 3004, 4Metastasis Research Lab, Peter MacCallum Cancer Centre, St Andrews Place, East Melbourne, Victoria 3002 and 5Department of Biochemistry and Molecular Biology. The University of Melbourne, Victoria 3010, Australia","institution_ids":["https://openalex.org/I142471025","https://openalex.org/I165779595","https://openalex.org/I2800555584","https://openalex.org/I42894916"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101609697","display_name":"James Bailey","orcid":"https://orcid.org/0000-0002-3769-3811"},"institutions":[{"id":"https://openalex.org/I142471025","display_name":"Baker Heart and Diabetes Institute","ror":"https://ror.org/03rke0285","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I142471025"]},{"id":"https://openalex.org/I165779595","display_name":"The University of Melbourne","ror":"https://ror.org/01ej9dk98","country_code":"AU","type":"education","lineage":["https://openalex.org/I165779595"]},{"id":"https://openalex.org/I2800555584","display_name":"Peter MacCallum Cancer Centre","ror":"https://ror.org/02a8bt934","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2800555584"]},{"id":"https://openalex.org/I42894916","display_name":"Data61","ror":"https://ror.org/03q397159","country_code":"AU","type":"other","lineage":["https://openalex.org/I1292875679","https://openalex.org/I2801453606","https://openalex.org/I42894916","https://openalex.org/I4387156119"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"James Bailey","raw_affiliation_strings":["1 Department of Computer Science and Software Engineering, 2NICTA, Victoria Research Lab, The University of Melbourne, Victoria 3010, 3Bioinformatics and Systems Integration, The Blood and DNA Profiling Facility, Baker IDI Heart and Diabetes Institute, 75 Commercial Rd, Prahran, Victoria 3004, 4Metastasis Research Lab, Peter MacCallum Cancer Centre, St Andrews Place, East Melbourne, Victoria 3002 and 5Department of Biochemistry and Molecular Biology. The University of Melbourne, Victoria 3010, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1 Department of Computer Science and Software Engineering, 2NICTA, Victoria Research Lab, The University of Melbourne, Victoria 3010, 3Bioinformatics and Systems Integration, The Blood and DNA Profiling Facility, Baker IDI Heart and Diabetes Institute, 75 Commercial Rd, Prahran, Victoria 3004, 4Metastasis Research Lab, Peter MacCallum Cancer Centre, St Andrews Place, East Melbourne, Victoria 3002 and 5Department of Biochemistry and Molecular Biology. The University of Melbourne, Victoria 3010, Australia","institution_ids":["https://openalex.org/I142471025","https://openalex.org/I165779595","https://openalex.org/I2800555584","https://openalex.org/I42894916"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112903849","display_name":"Izhak Haviv","orcid":null},"institutions":[{"id":"https://openalex.org/I142471025","display_name":"Baker Heart and Diabetes Institute","ror":"https://ror.org/03rke0285","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I142471025"]},{"id":"https://openalex.org/I165779595","display_name":"The University of Melbourne","ror":"https://ror.org/01ej9dk98","country_code":"AU","type":"education","lineage":["https://openalex.org/I165779595"]},{"id":"https://openalex.org/I2800555584","display_name":"Peter MacCallum Cancer Centre","ror":"https://ror.org/02a8bt934","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2800555584"]},{"id":"https://openalex.org/I42894916","display_name":"Data61","ror":"https://ror.org/03q397159","country_code":"AU","type":"other","lineage":["https://openalex.org/I1292875679","https://openalex.org/I2801453606","https://openalex.org/I42894916","https://openalex.org/I4387156119"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Izhak Haviv","raw_affiliation_strings":["1 Department of Computer Science and Software Engineering, 2NICTA, Victoria Research Lab, The University of Melbourne, Victoria 3010, 3Bioinformatics and Systems Integration, The Blood and DNA Profiling Facility, Baker IDI Heart and Diabetes Institute, 75 Commercial Rd, Prahran, Victoria 3004, 4Metastasis Research Lab, Peter MacCallum Cancer Centre, St Andrews Place, East Melbourne, Victoria 3002 and 5Department of Biochemistry and Molecular Biology. The University of Melbourne, Victoria 3010, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1 Department of Computer Science and Software Engineering, 2NICTA, Victoria Research Lab, The University of Melbourne, Victoria 3010, 3Bioinformatics and Systems Integration, The Blood and DNA Profiling Facility, Baker IDI Heart and Diabetes Institute, 75 Commercial Rd, Prahran, Victoria 3004, 4Metastasis Research Lab, Peter MacCallum Cancer Centre, St Andrews Place, East Melbourne, Victoria 3002 and 5Department of Biochemistry and Molecular Biology. The University of Melbourne, Victoria 3010, Australia","institution_ids":["https://openalex.org/I142471025","https://openalex.org/I165779595","https://openalex.org/I2800555584","https://openalex.org/I42894916"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5101601191","display_name":"Adam Kowalczyk","orcid":"https://orcid.org/0000-0001-9068-3383"},"institutions":[{"id":"https://openalex.org/I142471025","display_name":"Baker Heart and Diabetes Institute","ror":"https://ror.org/03rke0285","country_code":"AU","type":"nonprofit","lineage":["https://openalex.org/I142471025"]},{"id":"https://openalex.org/I165779595","display_name":"The University of Melbourne","ror":"https://ror.org/01ej9dk98","country_code":"AU","type":"education","lineage":["https://openalex.org/I165779595"]},{"id":"https://openalex.org/I2800555584","display_name":"Peter MacCallum Cancer Centre","ror":"https://ror.org/02a8bt934","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2800555584"]},{"id":"https://openalex.org/I42894916","display_name":"Data61","ror":"https://ror.org/03q397159","country_code":"AU","type":"other","lineage":["https://openalex.org/I1292875679","https://openalex.org/I2801453606","https://openalex.org/I42894916","https://openalex.org/I4387156119"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Adam Kowalczyk","raw_affiliation_strings":["1 Department of Computer Science and Software Engineering, 2NICTA, Victoria Research Lab, The University of Melbourne, Victoria 3010, 3Bioinformatics and Systems Integration, The Blood and DNA Profiling Facility, Baker IDI Heart and Diabetes Institute, 75 Commercial Rd, Prahran, Victoria 3004, 4Metastasis Research Lab, Peter MacCallum Cancer Centre, St Andrews Place, East Melbourne, Victoria 3002 and 5Department of Biochemistry and Molecular Biology. The University of Melbourne, Victoria 3010, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1 Department of Computer Science and Software Engineering, 2NICTA, Victoria Research Lab, The University of Melbourne, Victoria 3010, 3Bioinformatics and Systems Integration, The Blood and DNA Profiling Facility, Baker IDI Heart and Diabetes Institute, 75 Commercial Rd, Prahran, Victoria 3004, 4Metastasis Research Lab, Peter MacCallum Cancer Centre, St Andrews Place, East Melbourne, Victoria 3002 and 5Department of Biochemistry and Molecular Biology. The University of Melbourne, Victoria 3010, Australia","institution_ids":["https://openalex.org/I142471025","https://openalex.org/I165779595","https://openalex.org/I2800555584","https://openalex.org/I42894916"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5048069780"],"corresponding_institution_ids":["https://openalex.org/I142471025","https://openalex.org/I165779595","https://openalex.org/I2800555584","https://openalex.org/I42894916"],"apc_list":{"value":3618,"currency":"USD","value_usd":3618},"apc_paid":null,"fwci":7.8092,"has_fulltext":false,"cited_by_count":156,"citation_normalized_percentile":{"value":0.97855301,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":91,"max":100},"biblio":{"volume":"26","issue":"18","first_page":"i524","last_page":"i530"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.6913999915122986,"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/T10261","display_name":"Genetic Associations and Epidemiology","score":0.6913999915122986,"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/T10222","display_name":"Genomics and Chromatin Dynamics","score":0.19380000233650208,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.03819999843835831,"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/single-nucleotide-polymorphism","display_name":"Single-nucleotide polymorphism","score":0.7713934183120728},{"id":"https://openalex.org/keywords/in-silico","display_name":"In silico","score":0.7356768846511841},{"id":"https://openalex.org/keywords/genome-wide-association-study","display_name":"Genome-wide association study","score":0.6250723004341125},{"id":"https://openalex.org/keywords/snp","display_name":"SNP","score":0.6083673238754272},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.5807626247406006},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.44737353920936584},{"id":"https://openalex.org/keywords/multiple-comparisons-problem","display_name":"Multiple comparisons problem","score":0.4463224411010742},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.40331897139549255},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.3790041506290436},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.1503356397151947},{"id":"https://openalex.org/keywords/mathematics","display_name":"Mathematics","score":0.13288521766662598},{"id":"https://openalex.org/keywords/statistics","display_name":"Statistics","score":0.10927364230155945},{"id":"https://openalex.org/keywords/genotype","display_name":"Genotype","score":0.08302897214889526}],"concepts":[{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.7713934183120728},{"id":"https://openalex.org/C2775905019","wikidata":"https://www.wikidata.org/wiki/Q192572","display_name":"In silico","level":3,"score":0.7356768846511841},{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.6250723004341125},{"id":"https://openalex.org/C139275648","wikidata":"https://www.wikidata.org/wiki/Q17134011","display_name":"SNP","level":5,"score":0.6083673238754272},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5807626247406006},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.44737353920936584},{"id":"https://openalex.org/C183905921","wikidata":"https://www.wikidata.org/wiki/Q1038757","display_name":"Multiple comparisons problem","level":2,"score":0.4463224411010742},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.40331897139549255},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.3790041506290436},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.1503356397151947},{"id":"https://openalex.org/C33923547","wikidata":"https://www.wikidata.org/wiki/Q395","display_name":"Mathematics","level":0,"score":0.13288521766662598},{"id":"https://openalex.org/C105795698","wikidata":"https://www.wikidata.org/wiki/Q12483","display_name":"Statistics","level":1,"score":0.10927364230155945},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.08302897214889526}],"mesh":[{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"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":"D004247","descriptor_name":"DNA","qualifier_ui":"Q000032","qualifier_name":"analysis","is_major_topic":false},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":"Q000032","qualifier_name":"analysis","is_major_topic":false},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":"Q000032","qualifier_name":"analysis","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":"D012045","descriptor_name":"Regulatory Sequences, Nucleic Acid","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012045","descriptor_name":"Regulatory Sequences, Nucleic Acid","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012045","descriptor_name":"Regulatory Sequences, Nucleic Acid","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":"D014157","descriptor_name":"Transcription Factors","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D014157","descriptor_name":"Transcription Factors","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D014157","descriptor_name":"Transcription Factors","qualifier_ui":"Q000378","qualifier_name":"metabolism","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":"D030541","descriptor_name":"Databases, Genetic","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":false},{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056510","descriptor_name":"Position-Specific Scoring Matrices","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056510","descriptor_name":"Position-Specific Scoring Matrices","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056510","descriptor_name":"Position-Specific Scoring Matrices","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1093/bioinformatics/btq378","is_oa":false,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btq378","pdf_url":null,"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:20823317","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/20823317","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},{"id":"pmh:oai:jupiter.its.unimelb.edu.au:11343/31773","is_oa":false,"landing_page_url":"http://hdl.handle.net/11343/31773","pdf_url":null,"source":{"id":"https://openalex.org/S4377196259","display_name":"Minerva Access (University of Melbourne)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I165779595","host_organization_name":"The University of Melbourne","host_organization_lineage":["https://openalex.org/I165779595"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:2935445","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2935445","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":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Bioinformatics","raw_type":"Text"}],"best_oa_location":{"id":"pmh:oai:pubmedcentral.nih.gov:2935445","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2935445","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":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Bioinformatics","raw_type":"Text"},"sustainable_development_goals":[{"score":0.7300000190734863,"display_name":"Decent work and economic growth","id":"https://metadata.un.org/sdg/8"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320315885","display_name":"Australian Government","ror":"https://ror.org/0314h5y94"},{"id":"https://openalex.org/F4320320438","display_name":"National Breast Cancer Foundation","ror":"https://ror.org/0120ky124"},{"id":"https://openalex.org/F4320320501","display_name":"Cancer Australia","ror":"https://ror.org/00510tw04"},{"id":"https://openalex.org/F4320334704","display_name":"Australian Research Council","ror":"https://ror.org/05mmh0f86"},{"id":"https://openalex.org/F4320334705","display_name":"National Health and Medical Research Council","ror":"https://ror.org/011kf5r70"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":28,"referenced_works":["https://openalex.org/W1964690949","https://openalex.org/W1972129610","https://openalex.org/W1973046634","https://openalex.org/W1977041541","https://openalex.org/W1981812710","https://openalex.org/W1985621639","https://openalex.org/W2005546833","https://openalex.org/W2020242791","https://openalex.org/W2030600721","https://openalex.org/W2076844787","https://openalex.org/W2080719046","https://openalex.org/W2088378410","https://openalex.org/W2100509209","https://openalex.org/W2110065044","https://openalex.org/W2118215072","https://openalex.org/W2118596665","https://openalex.org/W2128252198","https://openalex.org/W2128636331","https://openalex.org/W2130027211","https://openalex.org/W2132033095","https://openalex.org/W2135030836","https://openalex.org/W2140600399","https://openalex.org/W2143945526","https://openalex.org/W2151088711","https://openalex.org/W2151754128","https://openalex.org/W2157753697","https://openalex.org/W2158266834","https://openalex.org/W2169016544"],"related_works":["https://openalex.org/W2164855536","https://openalex.org/W1997352593","https://openalex.org/W2143489661","https://openalex.org/W2070581548","https://openalex.org/W3016573916","https://openalex.org/W4281711902","https://openalex.org/W3206555169","https://openalex.org/W3157359833","https://openalex.org/W3024317680","https://openalex.org/W2571299013"],"abstract_inverted_index":{"MOTIVATION:":[0],"Determining":[1],"the":[2,34,98,129,160,185,199,202,228],"functional":[3,175],"impact":[4,176],"of":[5,21,36,101,132,142,195,214,230],"non-coding":[6],"disease-associated":[7,170],"single":[8],"nucleotide":[9,103],"polymorphisms":[10],"(SNPs)":[11],"identified":[12],"by":[13],"genome-wide":[14],"association":[15],"studies":[16],"(GWAS)":[17],"is":[18,209,221,235],"challenging.":[19],"Many":[20],"these":[22],"SNPs":[23,29,81,171,215],"are":[24,51,60,82,90],"likely":[25,83],"to":[26,41,43,127,145,180],"be":[27,78],"regulatory":[28,218],"(rSNPs):":[30],"variations":[31],"which":[32,80],"affect":[33],"ability":[35],"a":[37,70,102,106,222],"transcription":[38],"factor":[39],"(TF)":[40],"bind":[42],"DNA.":[44],"However,":[45,85],"experimental":[46],"procedures":[47],"for":[48,62,115,211,216,237],"identifying":[49],"rSNPs":[50],"expensive":[52],"and":[53,92,135,224],"labour":[54],"intensive.":[55],"Therefore,":[56],"in":[57,87,116,163,177,201,227],"silico":[58,117],"methods":[59,126],"required":[61],"rSNP":[63,118,146],"prediction.":[64],"By":[65],"scoring":[66],"two":[67],"alleles":[68],"with":[69,172,198],"TF":[71,162],"position":[72],"weight":[73],"matrix":[74],"(PWM),":[75],"it":[76],"can":[77],"determined":[79],"rSNPs.":[84,183],"predictions":[86],"this":[88],"manner":[89],"noisy":[91],"no":[93,173],"method":[94,152],"exists":[95],"that":[96,207],"determines":[97],"statistical":[99,143],"significance":[100,144],"variation":[104],"on":[105,153],"PWM":[107,133],"score.":[108],"RESULTS:":[109],"We":[110,122,148,166],"have":[111,149],"designed":[112],"an":[113,178],"algorithm":[114],"detection":[119],"called":[120],"is-rSNP.":[121],"employ":[123],"novel":[124],"convolution":[125],"determine":[128],"complete":[130],"distributions":[131],"scores":[134],"ratios":[136],"between":[137],"allele":[138],"scores,":[139],"facilitating":[140],"assignment":[141],"effects.":[147],"tested":[150],"our":[151],"41":[154],"experimentally":[155],"verified":[156],"rSNPs,":[157],"correctly":[158],"predicting":[159],"disrupted":[161,189],"28":[164],"cases.":[165],"also":[167],"analysed":[168],"146":[169],"known":[174],"attempt":[179],"identify":[181],"candidate":[182],"Of":[184],"11":[186],"significantly":[187],"predicted":[188],"TFs,":[190],"9":[191],"had":[192],"previous":[193],"evidence":[194],"being":[196],"associated":[197],"disease":[200],"literature.":[203],"These":[204],"results":[205],"demonstrate":[206],"is-rSNP":[208,233],"suitable":[210],"high-throughput":[212],"screening":[213],"potential":[217],"function.":[219],"This":[220],"useful":[223],"important":[225],"tool":[226],"interpretation":[229],"GWAS.":[231],"AVAILABILITY:":[232],"software":[234],"available":[236],"use":[238],"at:":[239],"www.genomics.csse.unimelb.edu.au/is-rSNP.":[240]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":4},{"year":2023,"cited_by_count":8},{"year":2022,"cited_by_count":5},{"year":2021,"cited_by_count":8},{"year":2020,"cited_by_count":6},{"year":2019,"cited_by_count":11},{"year":2018,"cited_by_count":4},{"year":2017,"cited_by_count":7},{"year":2016,"cited_by_count":21},{"year":2015,"cited_by_count":22},{"year":2014,"cited_by_count":16},{"year":2013,"cited_by_count":11},{"year":2012,"cited_by_count":17}],"updated_date":"2026-05-21T06:26:12.895304","created_date":"2016-06-24T00:00:00"}