{"id":"https://openalex.org/W2148830266","doi":"https://doi.org/10.1093/bioinformatics/bti442","title":"LS-SNP: large-scale annotation of coding non-synonymous SNPs based on multiple information sources","display_name":"LS-SNP: large-scale annotation of coding non-synonymous SNPs based on multiple information sources","publication_year":2005,"publication_date":"2005-04-12","ids":{"openalex":"https://openalex.org/W2148830266","doi":"https://doi.org/10.1093/bioinformatics/bti442","mag":"2148830266","pmid":"https://pubmed.ncbi.nlm.nih.gov/15827081"},"language":"en","primary_location":{"id":"doi:10.1093/bioinformatics/bti442","is_oa":false,"landing_page_url":"https://doi.org/10.1093/bioinformatics/bti442","pdf_url":null,"source":{"id":"https://openalex.org/S4210188263","display_name":"Computer applications in the biosciences","issn_l":"0266-7061","issn":["0266-7061","1460-2059"],"is_oa":false,"is_in_doaj":false,"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","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5034118773","display_name":"Rachel Karchin","orcid":"https://orcid.org/0000-0002-5069-1239"},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"R. Karchin","raw_affiliation_strings":["Department of Biopharmaceutical Sciences, University of California at San Francisco, San Francisco, CA 94143, USA. rachelk@salilab.org"],"affiliations":[{"raw_affiliation_string":"Department of Biopharmaceutical Sciences, University of California at San Francisco, San Francisco, CA 94143, USA. rachelk@salilab.org","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5054009720","display_name":"Mark Diekhans","orcid":"https://orcid.org/0000-0002-0430-0989"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M. Diekhans","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5017302403","display_name":"Libusha Kelly","orcid":"https://orcid.org/0000-0002-7303-1022"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"L. Kelly","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5107927091","display_name":"Daryl J. Thomas","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"D. J. Thomas","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5049498098","display_name":"Ursula Pieper","orcid":"https://orcid.org/0000-0002-3168-8122"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"U. Pieper","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5032919166","display_name":"Narayanan Eswar","orcid":"https://orcid.org/0009-0000-3711-2821"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"N. Eswar","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090849321","display_name":"David Haussler","orcid":"https://orcid.org/0000-0003-1533-4575"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"D. Haussler","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5028845140","display_name":"Andrej S\u0103li","orcid":"https://orcid.org/0000-0003-0435-6197"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"A. Sali","raw_affiliation_strings":[],"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":8,"corresponding_author_ids":["https://openalex.org/A5034118773"],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":7.7532,"has_fulltext":false,"cited_by_count":227,"citation_normalized_percentile":{"value":0.982904,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":100},"biblio":{"volume":"21","issue":"12","first_page":"2814","last_page":"2820"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10521","display_name":"RNA and protein synthesis mechanisms","score":0.9998000264167786,"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"}},"topics":[{"id":"https://openalex.org/T10521","display_name":"RNA and protein synthesis mechanisms","score":0.9998000264167786,"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/T10015","display_name":"Genomics and Phylogenetic Studies","score":0.9987999796867371,"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":0.9976000189781189,"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/dbsnp","display_name":"dbSNP","score":0.958511233329773},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphism","display_name":"Single-nucleotide polymorphism","score":0.8366707563400269},{"id":"https://openalex.org/keywords/tag-snp","display_name":"Tag SNP","score":0.6663435101509094},{"id":"https://openalex.org/keywords/snp","display_name":"SNP","score":0.6475333571434021},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.6085820198059082},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.5726863741874695},{"id":"https://openalex.org/keywords/haplotype","display_name":"Haplotype","score":0.503316342830658},{"id":"https://openalex.org/keywords/human-genome","display_name":"Human genome","score":0.49412229657173157},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.46715015172958374},{"id":"https://openalex.org/keywords/molecular-inversion-probe","display_name":"Molecular Inversion Probe","score":0.45482897758483887},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.4021575450897217},{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.3061126470565796},{"id":"https://openalex.org/keywords/genotype","display_name":"Genotype","score":0.15290918946266174}],"concepts":[{"id":"https://openalex.org/C35794970","wikidata":"https://www.wikidata.org/wiki/Q5243761","display_name":"dbSNP","level":5,"score":0.958511233329773},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.8366707563400269},{"id":"https://openalex.org/C55060382","wikidata":"https://www.wikidata.org/wiki/Q7675093","display_name":"Tag SNP","level":5,"score":0.6663435101509094},{"id":"https://openalex.org/C139275648","wikidata":"https://www.wikidata.org/wiki/Q17134011","display_name":"SNP","level":5,"score":0.6475333571434021},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6085820198059082},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5726863741874695},{"id":"https://openalex.org/C197754878","wikidata":"https://www.wikidata.org/wiki/Q80711","display_name":"Haplotype","level":4,"score":0.503316342830658},{"id":"https://openalex.org/C197077220","wikidata":"https://www.wikidata.org/wiki/Q720988","display_name":"Human genome","level":4,"score":0.49412229657173157},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.46715015172958374},{"id":"https://openalex.org/C59701697","wikidata":"https://www.wikidata.org/wiki/Q6895959","display_name":"Molecular Inversion Probe","level":5,"score":0.45482897758483887},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4021575450897217},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.3061126470565796},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.15290918946266174}],"mesh":[{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D003628","descriptor_name":"Database Management Systems","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003628","descriptor_name":"Database Management Systems","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003628","descriptor_name":"Database Management Systems","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011506","descriptor_name":"Proteins","qualifier_ui":"Q000032","qualifier_name":"analysis","is_major_topic":false},{"descriptor_ui":"D011506","descriptor_name":"Proteins","qualifier_ui":"Q000032","qualifier_name":"analysis","is_major_topic":false},{"descriptor_ui":"D011506","descriptor_name":"Proteins","qualifier_ui":"Q000032","qualifier_name":"analysis","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":"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":"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":"D016247","descriptor_name":"Information Storage and Retrieval","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D016247","descriptor_name":"Information Storage and Retrieval","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D016247","descriptor_name":"Information Storage and Retrieval","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D016366","descriptor_name":"Open Reading Frames","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D016366","descriptor_name":"Open Reading Frames","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D016366","descriptor_name":"Open Reading Frames","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D016415","descriptor_name":"Sequence Alignment","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D016415","descriptor_name":"Sequence Alignment","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D016415","descriptor_name":"Sequence Alignment","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D018511","descriptor_name":"Systems Integration","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018511","descriptor_name":"Systems Integration","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018511","descriptor_name":"Systems Integration","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020539","descriptor_name":"Sequence Analysis, Protein","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D020539","descriptor_name":"Sequence Analysis, Protein","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D020539","descriptor_name":"Sequence Analysis, Protein","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","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}],"locations_count":2,"locations":[{"id":"doi:10.1093/bioinformatics/bti442","is_oa":false,"landing_page_url":"https://doi.org/10.1093/bioinformatics/bti442","pdf_url":null,"source":{"id":"https://openalex.org/S4210188263","display_name":"Computer applications in the biosciences","issn_l":"0266-7061","issn":["0266-7061","1460-2059"],"is_oa":false,"is_in_doaj":false,"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:15827081","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/15827081","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}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.550000011920929}],"awards":[],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":53,"referenced_works":["https://openalex.org/W189143987","https://openalex.org/W1555580499","https://openalex.org/W1675823061","https://openalex.org/W1965708122","https://openalex.org/W1971149989","https://openalex.org/W1972436355","https://openalex.org/W1984498107","https://openalex.org/W1994127362","https://openalex.org/W2007972960","https://openalex.org/W2008708467","https://openalex.org/W2017316020","https://openalex.org/W2031704728","https://openalex.org/W2036730791","https://openalex.org/W2042604495","https://openalex.org/W2045389157","https://openalex.org/W2050625197","https://openalex.org/W2054668663","https://openalex.org/W2055043387","https://openalex.org/W2063274819","https://openalex.org/W2065283382","https://openalex.org/W2068796470","https://openalex.org/W2085277871","https://openalex.org/W2094054970","https://openalex.org/W2102122585","https://openalex.org/W2103631750","https://openalex.org/W2109372707","https://openalex.org/W2113712276","https://openalex.org/W2115829389","https://openalex.org/W2117077088","https://openalex.org/W2119110169","https://openalex.org/W2119821739","https://openalex.org/W2122732537","https://openalex.org/W2123619788","https://openalex.org/W2128016314","https://openalex.org/W2130675570","https://openalex.org/W2131736388","https://openalex.org/W2132606212","https://openalex.org/W2136145671","https://openalex.org/W2138494572","https://openalex.org/W2139621307","https://openalex.org/W2140244239","https://openalex.org/W2141481588","https://openalex.org/W2148853951","https://openalex.org/W2156575953","https://openalex.org/W2156909104","https://openalex.org/W2159482845","https://openalex.org/W2160938004","https://openalex.org/W2168770860","https://openalex.org/W2171380625","https://openalex.org/W4235019056","https://openalex.org/W4236236547","https://openalex.org/W4240921265","https://openalex.org/W4256395558"],"related_works":["https://openalex.org/W2168919926","https://openalex.org/W2029292949","https://openalex.org/W4243015022","https://openalex.org/W2061407956","https://openalex.org/W1504890006","https://openalex.org/W45489710","https://openalex.org/W2145418365","https://openalex.org/W2076132083","https://openalex.org/W2019337456","https://openalex.org/W3139651602"],"abstract_inverted_index":{"http://salilab.org/LS-SNP/supp-info.pdf.":[0]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":9},{"year":2023,"cited_by_count":3},{"year":2022,"cited_by_count":5},{"year":2021,"cited_by_count":5},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":5},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":5},{"year":2016,"cited_by_count":8},{"year":2015,"cited_by_count":8},{"year":2014,"cited_by_count":11},{"year":2013,"cited_by_count":17},{"year":2012,"cited_by_count":16}],"updated_date":"2026-01-13T01:12:25.745995","created_date":"2025-10-10T00:00:00"}