{"id":"https://openalex.org/W2162426271","doi":"https://doi.org/10.1093/bioinformatics/btu655","title":"SNPsnap: a Web-based tool for identification and annotation of matched SNPs","display_name":"SNPsnap: a Web-based tool for identification and annotation of matched SNPs","publication_year":2014,"publication_date":"2014-10-15","ids":{"openalex":"https://openalex.org/W2162426271","doi":"https://doi.org/10.1093/bioinformatics/btu655","mag":"2162426271"},"language":"en","primary_location":{"id":"doi:10.1093/bioinformatics/btu655","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btu655","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/31/3/418/49011237/bioinformatics_31_3_418.pdf","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"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://academic.oup.com/bioinformatics/article-pdf/31/3/418/49011237/bioinformatics_31_3_418.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5069069657","display_name":"Tune H. Pers","orcid":"https://orcid.org/0000-0003-0207-4831"},"institutions":[{"id":"https://openalex.org/I96673099","display_name":"Technical University of Denmark","ror":"https://ror.org/04qtj9h94","country_code":"DK","type":"education","lineage":["https://openalex.org/I96673099"]},{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"funder","lineage":["https://openalex.org/I107606265"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]}],"countries":["DK","US"],"is_corresponding":false,"raw_author_name":"Tune H. Pers","raw_affiliation_strings":["1 Division of Endocrinology and Center for Basic and Translational Obesity Research, Boston Children\u2019s Hospital, Boston, MA 02115, 2 Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA 2142, USA, 3 Department of Systems Biology, Center for Biological Sequence Analysis, Technical University of Denmark, 2800 Lyngby, Denmark and 4 Department of Genetics, Harvard Medical School, Boston, MA 02115, USA"],"affiliations":[{"raw_affiliation_string":"1 Division of Endocrinology and Center for Basic and Translational Obesity Research, Boston Children\u2019s Hospital, Boston, MA 02115, 2 Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA 2142, USA, 3 Department of Systems Biology, Center for Biological Sequence Analysis, Technical University of Denmark, 2800 Lyngby, Denmark and 4 Department of Genetics, Harvard Medical School, Boston, MA 02115, USA","institution_ids":["https://openalex.org/I136199984","https://openalex.org/I1288882113","https://openalex.org/I96673099","https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061711925","display_name":"Pascal Timshel","orcid":"https://orcid.org/0000-0002-0352-4323"},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"funder","lineage":["https://openalex.org/I107606265"]},{"id":"https://openalex.org/I96673099","display_name":"Technical University of Denmark","ror":"https://ror.org/04qtj9h94","country_code":"DK","type":"education","lineage":["https://openalex.org/I96673099"]},{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["DK","US"],"is_corresponding":false,"raw_author_name":"Pascal Timshel","raw_affiliation_strings":["1 Division of Endocrinology and Center for Basic and Translational Obesity Research, Boston Children\u2019s Hospital, Boston, MA 02115, 2 Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA 2142, USA, 3 Department of Systems Biology, Center for Biological Sequence Analysis, Technical University of Denmark, 2800 Lyngby, Denmark and 4 Department of Genetics, Harvard Medical School, Boston, MA 02115, USA"],"affiliations":[{"raw_affiliation_string":"1 Division of Endocrinology and Center for Basic and Translational Obesity Research, Boston Children\u2019s Hospital, Boston, MA 02115, 2 Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA 2142, USA, 3 Department of Systems Biology, Center for Biological Sequence Analysis, Technical University of Denmark, 2800 Lyngby, Denmark and 4 Department of Genetics, Harvard Medical School, Boston, MA 02115, USA","institution_ids":["https://openalex.org/I136199984","https://openalex.org/I1288882113","https://openalex.org/I96673099","https://openalex.org/I107606265"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5001552586","display_name":"Joel N. Hirschhorn","orcid":"https://orcid.org/0000-0002-1650-7901"},"institutions":[{"id":"https://openalex.org/I96673099","display_name":"Technical University of Denmark","ror":"https://ror.org/04qtj9h94","country_code":"DK","type":"education","lineage":["https://openalex.org/I96673099"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]},{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"funder","lineage":["https://openalex.org/I107606265"]}],"countries":["DK","US"],"is_corresponding":true,"raw_author_name":"Joel N. Hirschhorn","raw_affiliation_strings":["1 Division of Endocrinology and Center for Basic and Translational Obesity Research, Boston Children\u2019s Hospital, Boston, MA 02115, 2 Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA 2142, USA, 3 Department of Systems Biology, Center for Biological Sequence Analysis, Technical University of Denmark, 2800 Lyngby, Denmark and 4 Department of Genetics, Harvard Medical School, Boston, MA 02115, USA"],"affiliations":[{"raw_affiliation_string":"1 Division of Endocrinology and Center for Basic and Translational Obesity Research, Boston Children\u2019s Hospital, Boston, MA 02115, 2 Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA 2142, USA, 3 Department of Systems Biology, Center for Biological Sequence Analysis, Technical University of Denmark, 2800 Lyngby, Denmark and 4 Department of Genetics, Harvard Medical School, Boston, MA 02115, USA","institution_ids":["https://openalex.org/I136199984","https://openalex.org/I1288882113","https://openalex.org/I96673099","https://openalex.org/I107606265"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5001552586"],"corresponding_institution_ids":["https://openalex.org/I107606265","https://openalex.org/I1288882113","https://openalex.org/I136199984","https://openalex.org/I96673099"],"apc_list":{"value":3618,"currency":"USD","value_usd":3618},"apc_paid":null,"fwci":3.9766,"has_fulltext":true,"cited_by_count":194,"citation_normalized_percentile":{"value":0.94633621,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":97,"max":100},"biblio":{"volume":"31","issue":"3","first_page":"418","last_page":"420"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10015","display_name":"Genomics and Phylogenetic Studies","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"}},"topics":[{"id":"https://openalex.org/T10015","display_name":"Genomics and Phylogenetic Studies","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"}},{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.996399998664856,"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/T10885","display_name":"Gene expression and cancer classification","score":0.9954000115394592,"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/annotation","display_name":"Annotation","score":0.8075330257415771},{"id":"https://openalex.org/keywords/identification","display_name":"Identification (biology)","score":0.6972875595092773},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.6132166385650635},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphism","display_name":"Single-nucleotide polymorphism","score":0.48823192715644836},{"id":"https://openalex.org/keywords/web-application","display_name":"Web application","score":0.4636014699935913},{"id":"https://openalex.org/keywords/web-site","display_name":"Web site","score":0.42280927300453186},{"id":"https://openalex.org/keywords/world-wide-web","display_name":"World Wide Web","score":0.4221005141735077},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.3413575291633606},{"id":"https://openalex.org/keywords/artificial-intelligence","display_name":"Artificial intelligence","score":0.22291317582130432},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.19951793551445007},{"id":"https://openalex.org/keywords/the-internet","display_name":"The Internet","score":0.19808462262153625},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.16563451290130615},{"id":"https://openalex.org/keywords/genotype","display_name":"Genotype","score":0.11258399486541748},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.07422083616256714}],"concepts":[{"id":"https://openalex.org/C2776321320","wikidata":"https://www.wikidata.org/wiki/Q857525","display_name":"Annotation","level":2,"score":0.8075330257415771},{"id":"https://openalex.org/C116834253","wikidata":"https://www.wikidata.org/wiki/Q2039217","display_name":"Identification (biology)","level":2,"score":0.6972875595092773},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.6132166385650635},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.48823192715644836},{"id":"https://openalex.org/C118643609","wikidata":"https://www.wikidata.org/wiki/Q189210","display_name":"Web application","level":2,"score":0.4636014699935913},{"id":"https://openalex.org/C2984519610","wikidata":"https://www.wikidata.org/wiki/Q35127","display_name":"Web site","level":3,"score":0.42280927300453186},{"id":"https://openalex.org/C136764020","wikidata":"https://www.wikidata.org/wiki/Q466","display_name":"World Wide Web","level":1,"score":0.4221005141735077},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.3413575291633606},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.22291317582130432},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.19951793551445007},{"id":"https://openalex.org/C110875604","wikidata":"https://www.wikidata.org/wiki/Q75","display_name":"The Internet","level":2,"score":0.19808462262153625},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.16563451290130615},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.11258399486541748},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.07422083616256714},{"id":"https://openalex.org/C59822182","wikidata":"https://www.wikidata.org/wiki/Q441","display_name":"Botany","level":1,"score":0.0}],"mesh":[],"locations_count":2,"locations":[{"id":"doi:10.1093/bioinformatics/btu655","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btu655","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/31/3/418/49011237/bioinformatics_31_3_418.pdf","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":"pmh:oai:pubmedcentral.nih.gov:4308663","is_oa":true,"landing_page_url":"http://doi.org/10.1093/bioinformatics/btu655","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":"","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1093/bioinformatics/btu655","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btu655","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/31/3/418/49011237/bioinformatics_31_3_418.pdf","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"},"sustainable_development_goals":[{"display_name":"Partnerships for the goals","score":0.4399999976158142,"id":"https://metadata.un.org/sdg/17"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320322928","display_name":"Danmarks Frie Forskningsfond","ror":"https://ror.org/02sptwz63"},{"id":"https://openalex.org/F4320324456","display_name":"Alfred Benzon Foundation","ror":"https://ror.org/005s1m246"},{"id":"https://openalex.org/F4320337357","display_name":"National Institute of Diabetes and Digestive and Kidney Diseases","ror":"https://ror.org/00adh9b73"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2162426271.pdf","grobid_xml":"https://content.openalex.org/works/W2162426271.grobid-xml"},"referenced_works_count":15,"referenced_works":["https://openalex.org/W2017316872","https://openalex.org/W2019983262","https://openalex.org/W2025471227","https://openalex.org/W2046434400","https://openalex.org/W2078059415","https://openalex.org/W2096791516","https://openalex.org/W2101586773","https://openalex.org/W2114327599","https://openalex.org/W2117446594","https://openalex.org/W2123411711","https://openalex.org/W2139852278","https://openalex.org/W2161633633","https://openalex.org/W2161998322","https://openalex.org/W4210767115","https://openalex.org/W4213327946"],"related_works":["https://openalex.org/W2361861616","https://openalex.org/W2263699433","https://openalex.org/W2377979023","https://openalex.org/W2218034408","https://openalex.org/W2392921965","https://openalex.org/W2358755282","https://openalex.org/W2625833328","https://openalex.org/W4405124681","https://openalex.org/W1533177136","https://openalex.org/W2466929855"],"abstract_inverted_index":{"Abstract":[0],"Summary:":[1],"An":[2],"important":[3],"computational":[4],"step":[5],"following":[6],"genome-wide":[7],"association":[8],"studies":[9],"(GWAS)":[10],"is":[11,117],"to":[12,30,40,74,90,106],"assess":[13],"whether":[14],"disease":[15],"or":[16],"trait-associated":[17],"single-nucleotide":[18],"polymorphisms":[19],"(SNPs)":[20],"enrich":[21],"for":[22,32],"particular":[23],"biological":[24],"annotations.":[25],"SNP-based":[26,61],"enrichment":[27,62],"analysis":[28,63],"needs":[29],"account":[31],"biases":[33],"such":[34],"as":[35],"co-localization":[36],"of":[37,50,68,83,93,101],"GWAS":[38],"signals":[39],"gene-dense":[41],"and":[42,48,54,109,113],"high":[43],"linkage":[44],"disequilibrium":[45],"(LD)":[46],"regions,":[47],"correlations":[49],"gene":[51,108,110],"size,":[52],"location":[53],"function.":[55],"The":[56],"SNPsnap":[57,79,115],"Web":[58],"server":[59,116],"enables":[60],"by":[64],"providing":[65],"matched":[66,89],"sets":[67,82],"SNPs":[69,86,95,102],"that":[70,87],"can":[71],"be":[72],"used":[73],"calibrate":[75],"background":[76],"expectations.":[77],"Specifically,":[78],"efficiently":[80],"identifies":[81],"randomly":[84],"drawn":[85],"are":[88,128],"a":[91],"set":[92],"query":[94],"based":[96],"on":[97],"allele":[98],"frequency,":[99],"number":[100],"in":[103],"LD,":[104],"distance":[105],"nearest":[107],"density.":[111],"Availability":[112],"implementation:":[114],"available":[118,129],"at":[119,130],"http://www.broadinstitute.org/mpg/snpsnap/":[120],".":[121],"Contact:":[122],"joelh@broadinstitute.org":[123],"Supplementary":[124,126],"information:":[125],"data":[127],"Bioinformatics":[131],"online.":[132]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":7},{"year":2024,"cited_by_count":18},{"year":2023,"cited_by_count":22},{"year":2022,"cited_by_count":29},{"year":2021,"cited_by_count":29},{"year":2020,"cited_by_count":29},{"year":2019,"cited_by_count":15},{"year":2018,"cited_by_count":15},{"year":2017,"cited_by_count":19},{"year":2016,"cited_by_count":4},{"year":2015,"cited_by_count":5}],"updated_date":"2026-03-04T09:10:02.777135","created_date":"2016-06-24T00:00:00"}
