{"id":"https://openalex.org/W2001087902","doi":"https://doi.org/10.1093/nar/gkm979","title":"Joint annotation of coding and non-coding single nucleotide polymorphisms and mutations in the SNPeffect and PupaSuite databases","display_name":"Joint annotation of coding and non-coding single nucleotide polymorphisms and mutations in the SNPeffect and PupaSuite databases","publication_year":2007,"publication_date":"2007-12-17","ids":{"openalex":"https://openalex.org/W2001087902","doi":"https://doi.org/10.1093/nar/gkm979","mag":"2001087902","pmid":"https://pubmed.ncbi.nlm.nih.gov/18086700"},"language":"en","primary_location":{"id":"doi:10.1093/nar/gkm979","is_oa":true,"landing_page_url":"https://doi.org/10.1093/nar/gkm979","pdf_url":null,"source":{"id":"https://openalex.org/S134668137","display_name":"Nucleic Acids Research","issn_l":"0305-1048","issn":["0305-1048","1362-4954","1362-4962"],"is_oa":true,"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":"Nucleic Acids Research","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://doi.org/10.1093/nar/gkm979","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5068993139","display_name":"Joke Reumers","orcid":"https://orcid.org/0000-0001-5434-6515"},"institutions":[{"id":"https://openalex.org/I13469542","display_name":"Vrije Universiteit Brussel","ror":"https://ror.org/006e5kg04","country_code":"BE","type":"education","lineage":["https://openalex.org/I13469542"]}],"countries":["BE"],"is_corresponding":true,"raw_author_name":"Joke Reumers","raw_affiliation_strings":["Switch Laboratory, Department of Applied Biological Sciences, Vrije Universiteit Brussel, Switch Laboratory, VIB, Pleinlaan 2, 1050 Brussel, Belgium","Vrije Universiteit Brussel, Brussels, Belgium"],"affiliations":[{"raw_affiliation_string":"Switch Laboratory, Department of Applied Biological Sciences, Vrije Universiteit Brussel, Switch Laboratory, VIB, Pleinlaan 2, 1050 Brussel, Belgium","institution_ids":[]},{"raw_affiliation_string":"Vrije Universiteit Brussel, Brussels, Belgium","institution_ids":["https://openalex.org/I13469542"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033393201","display_name":"Luc\u00eda Conde","orcid":"https://orcid.org/0000-0001-5180-543X"},"institutions":[{"id":"https://openalex.org/I13469542","display_name":"Vrije Universiteit Brussel","ror":"https://ror.org/006e5kg04","country_code":"BE","type":"education","lineage":["https://openalex.org/I13469542"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Lucia Conde","raw_affiliation_strings":["Vrije Universiteit Brussel, Brussels, Belgium"],"affiliations":[{"raw_affiliation_string":"Vrije Universiteit Brussel, Brussels, Belgium","institution_ids":["https://openalex.org/I13469542"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068938981","display_name":"Ignacio Medina","orcid":"https://orcid.org/0000-0003-0095-670X"},"institutions":[{"id":"https://openalex.org/I13469542","display_name":"Vrije Universiteit Brussel","ror":"https://ror.org/006e5kg04","country_code":"BE","type":"education","lineage":["https://openalex.org/I13469542"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Ignacio Medina","raw_affiliation_strings":["Vrije Universiteit Brussel, Brussels, Belgium"],"affiliations":[{"raw_affiliation_string":"Vrije Universiteit Brussel, Brussels, Belgium","institution_ids":["https://openalex.org/I13469542"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5019975803","display_name":"Sebastian Maurer\u2010Stroh","orcid":"https://orcid.org/0000-0003-0813-9640"},"institutions":[{"id":"https://openalex.org/I13469542","display_name":"Vrije Universiteit Brussel","ror":"https://ror.org/006e5kg04","country_code":"BE","type":"education","lineage":["https://openalex.org/I13469542"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Sebastian Maurer-Stroh","raw_affiliation_strings":["Vrije Universiteit Brussel, Brussels, Belgium"],"affiliations":[{"raw_affiliation_string":"Vrije Universiteit Brussel, Brussels, Belgium","institution_ids":["https://openalex.org/I13469542"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070924824","display_name":"Joost Van Durme","orcid":null},"institutions":[{"id":"https://openalex.org/I13469542","display_name":"Vrije Universiteit Brussel","ror":"https://ror.org/006e5kg04","country_code":"BE","type":"education","lineage":["https://openalex.org/I13469542"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Joost Van Durme","raw_affiliation_strings":["Vrije Universiteit Brussel, Brussels, Belgium"],"affiliations":[{"raw_affiliation_string":"Vrije Universiteit Brussel, Brussels, Belgium","institution_ids":["https://openalex.org/I13469542"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074140420","display_name":"Joaqu\u0131\u0301n Dopazo","orcid":"https://orcid.org/0000-0003-3318-120X"},"institutions":[{"id":"https://openalex.org/I13469542","display_name":"Vrije Universiteit Brussel","ror":"https://ror.org/006e5kg04","country_code":"BE","type":"education","lineage":["https://openalex.org/I13469542"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Joaquin Dopazo","raw_affiliation_strings":["Vrije Universiteit Brussel, Brussels, Belgium"],"affiliations":[{"raw_affiliation_string":"Vrije Universiteit Brussel, Brussels, Belgium","institution_ids":["https://openalex.org/I13469542"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008256216","display_name":"Fr\u00e9d\u00e9ric Rousseau","orcid":"https://orcid.org/0000-0002-9189-7399"},"institutions":[{"id":"https://openalex.org/I13469542","display_name":"Vrije Universiteit Brussel","ror":"https://ror.org/006e5kg04","country_code":"BE","type":"education","lineage":["https://openalex.org/I13469542"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Frederic Rousseau","raw_affiliation_strings":["Vrije Universiteit Brussel, Brussels, Belgium"],"affiliations":[{"raw_affiliation_string":"Vrije Universiteit Brussel, Brussels, Belgium","institution_ids":["https://openalex.org/I13469542"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5031589452","display_name":"Joost Schymkowitz","orcid":"https://orcid.org/0000-0003-2020-0168"},"institutions":[{"id":"https://openalex.org/I13469542","display_name":"Vrije Universiteit Brussel","ror":"https://ror.org/006e5kg04","country_code":"BE","type":"education","lineage":["https://openalex.org/I13469542"]}],"countries":["BE"],"is_corresponding":false,"raw_author_name":"Joost Schymkowitz","raw_affiliation_strings":["Vrije Universiteit Brussel, Brussels, Belgium"],"affiliations":[{"raw_affiliation_string":"Vrije Universiteit Brussel, Brussels, Belgium","institution_ids":["https://openalex.org/I13469542"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":8,"corresponding_author_ids":["https://openalex.org/A5068993139"],"corresponding_institution_ids":["https://openalex.org/I13469542"],"apc_list":{"value":3630,"currency":"USD","value_usd":3630},"apc_paid":{"value":3630,"currency":"USD","value_usd":3630},"fwci":5.2651,"has_fulltext":false,"cited_by_count":65,"citation_normalized_percentile":{"value":0.96103603,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":99},"biblio":{"volume":"36","issue":"suppl_1","first_page":"D825","last_page":"D829"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9991999864578247,"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":0.9991999864578247,"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/T10521","display_name":"RNA and protein synthesis mechanisms","score":0.9980000257492065,"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/T12254","display_name":"Machine Learning in Bioinformatics","score":0.9936000108718872,"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/single-nucleotide-polymorphism","display_name":"Single-nucleotide polymorphism","score":0.8135796785354614},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.8129799962043762},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.6463830471038818},{"id":"https://openalex.org/keywords/1000-genomes-project","display_name":"1000 Genomes Project","score":0.6006514430046082},{"id":"https://openalex.org/keywords/dbsnp","display_name":"dbSNP","score":0.5759860873222351},{"id":"https://openalex.org/keywords/human-genome","display_name":"Human genome","score":0.5716339349746704},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.5156101584434509},{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.4509718418121338},{"id":"https://openalex.org/keywords/snp","display_name":"SNP","score":0.44558537006378174},{"id":"https://openalex.org/keywords/annotation","display_name":"Annotation","score":0.42914268374443054},{"id":"https://openalex.org/keywords/refseq","display_name":"RefSeq","score":0.4280027151107788},{"id":"https://openalex.org/keywords/genotype","display_name":"Genotype","score":0.3256334364414215},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.28896772861480713}],"concepts":[{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.8135796785354614},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.8129799962043762},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6463830471038818},{"id":"https://openalex.org/C97425143","wikidata":"https://www.wikidata.org/wiki/Q164786","display_name":"1000 Genomes Project","level":5,"score":0.6006514430046082},{"id":"https://openalex.org/C35794970","wikidata":"https://www.wikidata.org/wiki/Q5243761","display_name":"dbSNP","level":5,"score":0.5759860873222351},{"id":"https://openalex.org/C197077220","wikidata":"https://www.wikidata.org/wiki/Q720988","display_name":"Human genome","level":4,"score":0.5716339349746704},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5156101584434509},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.4509718418121338},{"id":"https://openalex.org/C139275648","wikidata":"https://www.wikidata.org/wiki/Q17134011","display_name":"SNP","level":5,"score":0.44558537006378174},{"id":"https://openalex.org/C2776321320","wikidata":"https://www.wikidata.org/wiki/Q857525","display_name":"Annotation","level":2,"score":0.42914268374443054},{"id":"https://openalex.org/C151810110","wikidata":"https://www.wikidata.org/wiki/Q7307074","display_name":"RefSeq","level":4,"score":0.4280027151107788},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.3256334364414215},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.28896772861480713}],"mesh":[{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","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":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D011506","descriptor_name":"Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011506","descriptor_name":"Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011506","descriptor_name":"Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011506","descriptor_name":"Proteins","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D011506","descriptor_name":"Proteins","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D011506","descriptor_name":"Proteins","qualifier_ui":"Q000737","qualifier_name":"chemistry","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":"D014157","descriptor_name":"Transcription Factors","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D018840","descriptor_name":"HSP70 Heat-Shock Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D018840","descriptor_name":"HSP70 Heat-Shock Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D018840","descriptor_name":"HSP70 Heat-Shock Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D019943","descriptor_name":"Amino Acid Substitution","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019943","descriptor_name":"Amino Acid Substitution","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019943","descriptor_name":"Amino Acid Substitution","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":"D022821","descriptor_name":"RNA Splice Sites","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D022821","descriptor_name":"RNA Splice Sites","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D022821","descriptor_name":"RNA Splice Sites","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D035683","descriptor_name":"MicroRNAs","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D035683","descriptor_name":"MicroRNAs","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D035683","descriptor_name":"MicroRNAs","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051381","descriptor_name":"Rats","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051381","descriptor_name":"Rats","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051381","descriptor_name":"Rats","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":6,"locations":[{"id":"doi:10.1093/nar/gkm979","is_oa":true,"landing_page_url":"https://doi.org/10.1093/nar/gkm979","pdf_url":null,"source":{"id":"https://openalex.org/S134668137","display_name":"Nucleic Acids Research","issn_l":"0305-1048","issn":["0305-1048","1362-4954","1362-4962"],"is_oa":true,"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":"Nucleic Acids Research","raw_type":"journal-article"},{"id":"pmid:18086700","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/18086700","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":"Nucleic acids research","raw_type":null},{"id":"pmh:oai:lirias2repo.kuleuven.be:123456789/247181","is_oa":true,"landing_page_url":"https://lirias.kuleuven.be/handle/123456789/247181","pdf_url":null,"source":{"id":"https://openalex.org/S4306401954","display_name":"Lirias (KU Leuven)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I99464096","host_organization_name":"KU Leuven","host_organization_lineage":["https://openalex.org/I99464096"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"Nucleic Acids Research, vol. 36 (Database issue), (D825-D829)","raw_type":"info:eu-repo/semantics/publishedVersion"},{"id":"pmh:oai:eprints.ucl.ac.uk.OAI2:1482880","is_oa":false,"landing_page_url":"http://discovery.ucl.ac.uk/1482880/","pdf_url":null,"source":{"id":"https://openalex.org/S4306400024","display_name":"UCL Discovery (University College London)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I45129253","host_organization_name":"University College London","host_organization_lineage":["https://openalex.org/I45129253"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"   NUCLEIC ACIDS RESEARCH , 36    D825-D829.   (2008)      ","raw_type":"Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:2238831","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2238831","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","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":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Nucleic Acids Res","raw_type":"Text"},{"id":"pmh:oai:vubissmart:VUBISSMART:2000:48426","is_oa":false,"landing_page_url":"https://biblio.vub.ac.be/vubir/joint-annotation-of-coding-and-noncoding-single-nucleotide-polymorphisms-and-mutations-in-the-snpeffect-and-pupasuite-databases(e488376a-d19d-43c6-87b1-eb1d589fac11).html","pdf_url":null,"source":{"id":"https://openalex.org/S4306402573","display_name":"VUBIR (Vrije Universiteit Brussel)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I13469542","host_organization_name":"Vrije Universiteit Brussel","host_organization_lineage":["https://openalex.org/I13469542"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"article"}],"best_oa_location":{"id":"doi:10.1093/nar/gkm979","is_oa":true,"landing_page_url":"https://doi.org/10.1093/nar/gkm979","pdf_url":null,"source":{"id":"https://openalex.org/S134668137","display_name":"Nucleic Acids Research","issn_l":"0305-1048","issn":["0305-1048","1362-4954","1362-4962"],"is_oa":true,"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":"Nucleic Acids Research","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.7900000214576721}],"awards":[{"id":"https://openalex.org/G6369594734","display_name":null,"funder_award_id":"FWO Vlaanderen","funder_id":"https://openalex.org/F4320321730","funder_display_name":"Fonds Wetenschappelijk Onderzoek"}],"funders":[{"id":"https://openalex.org/F4320321730","display_name":"Fonds Wetenschappelijk Onderzoek","ror":"https://ror.org/03qtxy027"},{"id":"https://openalex.org/F4320327336","display_name":"Vlaamse regering","ror":null}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":18,"referenced_works":["https://openalex.org/W1553810884","https://openalex.org/W2014606320","https://openalex.org/W2015899951","https://openalex.org/W2038921819","https://openalex.org/W2046508931","https://openalex.org/W2076945013","https://openalex.org/W2084620487","https://openalex.org/W2085755265","https://openalex.org/W2093245824","https://openalex.org/W2098949725","https://openalex.org/W2106963632","https://openalex.org/W2108514550","https://openalex.org/W2112874424","https://openalex.org/W2118675686","https://openalex.org/W2122732537","https://openalex.org/W2161062388","https://openalex.org/W4210241463","https://openalex.org/W4211083314"],"related_works":["https://openalex.org/W2103175976","https://openalex.org/W1608869723","https://openalex.org/W1539262549","https://openalex.org/W1980122460","https://openalex.org/W2148830266","https://openalex.org/W2419071363","https://openalex.org/W1976719696","https://openalex.org/W2017507057","https://openalex.org/W2093272809","https://openalex.org/W2001087902"],"abstract_inverted_index":{"Single":[0],"nucleotide":[1,69],"polymorphisms":[2],"(SNPs)":[3],"are,":[4],"together":[5],"with":[6,22],"copy":[7],"number":[8],"variation,":[9],"the":[10,16,49,62,102,140],"primary":[11],"source":[12],"of":[13,44,61,67,105,115,126,143,219],"variation":[14],"in":[15,42,153,168],"human":[17,106,210,221],"genome.":[18],"SNPs":[19,152,167,211],"are":[20,85,137],"associated":[21],"altered":[23],"response":[24],"to":[25,29,75,88,192],"drug":[26],"treatment,":[27],"susceptibility":[28],"disease":[30,52,107,214],"and":[31,46,55,64,77,82,94,121,155,170,177,212,216,223,228],"other":[32],"phenotypic":[33,217],"variation.":[34],"Furthermore,":[35],"during":[36],"genetic":[37],"screens":[38],"for":[39,91,101,134,151,165,175,202],"disease-associated":[40],"mutations":[41],"groups":[43],"patients":[45],"control":[47],"individuals,":[48],"distinction":[50],"between":[51],"causing":[53],"mutation":[54],"polymorphism":[56],"is":[57,224],"often":[58],"unclear.":[59],"Annotation":[60],"functional":[63],"structural":[65],"implications":[66],"single":[68],"changes":[70],"thus":[71],"provides":[72],"valuable":[73],"information":[74],"interpret":[76],"guide":[78],"experiments.":[79],"The":[80,145,197],"SNPeffect":[81,111],"PupaSuite":[83,147,186],"databases":[84],"now":[86,112],"synchronized":[87],"deliver":[89],"annotations":[90,100,201],"both":[92],"non-coding":[93],"coding":[95,209],"SNP,":[96],"as":[97,99,129,131,160,162,205,207],"well":[98,130,161,206],"SwissProt":[103],"set":[104],"mutations.":[108],"In":[109,183],"addition,":[110,184],"contains":[113],"predictions":[114,150,174],"Tango2:":[116],"an":[117],"improved":[118,132],"aggregation":[119],"detector,":[120],"Waltz:":[122],"a":[123,185],"novel":[124],"predictor":[125],"amyloid-forming":[127],"sequences,":[128],"predictors":[133],"regions":[135],"that":[136],"recognized":[138],"by":[139],"Hsp70":[141],"family":[142],"chaperones.":[144],"new":[146],"version":[148],"incorporates":[149],"silencers":[154],"miRNAs":[156],"including":[157],"their":[158],"targets,":[159],"additional":[163],"methods":[164],"predicting":[166],"TFBSs":[169],"splice":[171],"sites.":[172],"Also":[173],"mouse":[176],"rat":[178],"genomes":[179],"have":[180],"been":[181,190],"added.":[182],"web":[187],"service":[188],"has":[189],"developed":[191],"enable":[193],"data":[194],"access,":[195],"programmatically.":[196],"combined":[198],"database":[199],"holds":[200],"4,965,073":[203],"regulatory":[204],"133,505":[208],"14,935":[213],"mutations,":[215],"descriptions":[218],"43,797":[220],"proteins":[222],"accessible":[225],"via":[226],"http://snpeffect.vib.be":[227],"http://pupasuite.bioinfo.cipf.es/.":[229]},"counts_by_year":[{"year":2024,"cited_by_count":4},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":1},{"year":2016,"cited_by_count":3},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":3},{"year":2013,"cited_by_count":6},{"year":2012,"cited_by_count":6}],"updated_date":"2026-04-05T17:49:38.594831","created_date":"2025-10-10T00:00:00"}
