{"id":"https://openalex.org/W2113497138","doi":"https://doi.org/10.1093/bioinformatics/btq396","title":"Candidate gene prioritization based on spatially mapped gene expression: an application to XLMR","display_name":"Candidate gene prioritization based on spatially mapped gene expression: an application to XLMR","publication_year":2010,"publication_date":"2010-09-04","ids":{"openalex":"https://openalex.org/W2113497138","doi":"https://doi.org/10.1093/bioinformatics/btq396","mag":"2113497138","pmid":"https://pubmed.ncbi.nlm.nih.gov/20823330"},"language":"en","primary_location":{"id":"doi:10.1093/bioinformatics/btq396","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btq396","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/26/18/i618/16896053/btq396.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","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://academic.oup.com/bioinformatics/article-pdf/26/18/i618/16896053/btq396.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5060099317","display_name":"Rosario M. Piro","orcid":"https://orcid.org/0000-0002-3066-7397"},"institutions":[{"id":"https://openalex.org/I55143463","display_name":"University of Turin","ror":"https://ror.org/048tbm396","country_code":"IT","type":"education","lineage":["https://openalex.org/I55143463"]}],"countries":["IT"],"is_corresponding":true,"raw_author_name":"Rosario M. Piro","raw_affiliation_strings":["Molecular Biotechnology Center and Department of Genetics, Biology and Biochemistry, University of Torino, Via Nizza 52, 10126 Torino, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Molecular Biotechnology Center and Department of Genetics, Biology and Biochemistry, University of Torino, Via Nizza 52, 10126 Torino, Italy","institution_ids":["https://openalex.org/I55143463"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003294860","display_name":"Ivan Molineris","orcid":"https://orcid.org/0000-0003-2102-0804"},"institutions":[{"id":"https://openalex.org/I55143463","display_name":"University of Turin","ror":"https://ror.org/048tbm396","country_code":"IT","type":"education","lineage":["https://openalex.org/I55143463"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Ivan Molineris","raw_affiliation_strings":["Molecular Biotechnology Center and Department of Genetics, Biology and Biochemistry, University of Torino, Via Nizza 52, 10126 Torino, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Molecular Biotechnology Center and Department of Genetics, Biology and Biochemistry, University of Torino, Via Nizza 52, 10126 Torino, Italy","institution_ids":["https://openalex.org/I55143463"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5065808492","display_name":"Ugo Ala","orcid":"https://orcid.org/0000-0001-5408-6397"},"institutions":[{"id":"https://openalex.org/I55143463","display_name":"University of Turin","ror":"https://ror.org/048tbm396","country_code":"IT","type":"education","lineage":["https://openalex.org/I55143463"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Ugo Ala","raw_affiliation_strings":["Molecular Biotechnology Center and Department of Genetics, Biology and Biochemistry, University of Torino, Via Nizza 52, 10126 Torino, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Molecular Biotechnology Center and Department of Genetics, Biology and Biochemistry, University of Torino, Via Nizza 52, 10126 Torino, Italy","institution_ids":["https://openalex.org/I55143463"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5063120064","display_name":"Paolo Provero","orcid":"https://orcid.org/0000-0001-8664-8630"},"institutions":[{"id":"https://openalex.org/I55143463","display_name":"University of Turin","ror":"https://ror.org/048tbm396","country_code":"IT","type":"education","lineage":["https://openalex.org/I55143463"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Paolo Provero","raw_affiliation_strings":["Molecular Biotechnology Center and Department of Genetics, Biology and Biochemistry, University of Torino, Via Nizza 52, 10126 Torino, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Molecular Biotechnology Center and Department of Genetics, Biology and Biochemistry, University of Torino, Via Nizza 52, 10126 Torino, Italy","institution_ids":["https://openalex.org/I55143463"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5023662721","display_name":"Ferdinando Di Cunto","orcid":"https://orcid.org/0000-0001-9367-6357"},"institutions":[{"id":"https://openalex.org/I55143463","display_name":"University of Turin","ror":"https://ror.org/048tbm396","country_code":"IT","type":"education","lineage":["https://openalex.org/I55143463"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Ferdinando Di Cunto","raw_affiliation_strings":["Molecular Biotechnology Center and Department of Genetics, Biology and Biochemistry, University of Torino, Via Nizza 52, 10126 Torino, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Molecular Biotechnology Center and Department of Genetics, Biology and Biochemistry, University of Torino, Via Nizza 52, 10126 Torino, Italy","institution_ids":["https://openalex.org/I55143463"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5060099317"],"corresponding_institution_ids":["https://openalex.org/I55143463"],"apc_list":{"value":3618,"currency":"USD","value_usd":3618},"apc_paid":null,"fwci":1.4909,"has_fulltext":false,"cited_by_count":15,"citation_normalized_percentile":{"value":0.81602118,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":90,"max":98},"biblio":{"volume":"26","issue":"18","first_page":"i618","last_page":"i624"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10222","display_name":"Genomics and Chromatin Dynamics","score":0.9994000196456909,"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/T10222","display_name":"Genomics and Chromatin Dynamics","score":0.9994000196456909,"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/T11482","display_name":"RNA modifications and cancer","score":0.9988999962806702,"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":0.9983000159263611,"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/identification","display_name":"Identification (biology)","score":0.6314367055892944},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.6061811447143555},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.581813395023346},{"id":"https://openalex.org/keywords/phenotype","display_name":"Phenotype","score":0.58150315284729},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.5555934906005859},{"id":"https://openalex.org/keywords/candidate-gene","display_name":"Candidate gene","score":0.5274814963340759},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.511242151260376},{"id":"https://openalex.org/keywords/human-genome","display_name":"Human genome","score":0.4506261646747589},{"id":"https://openalex.org/keywords/omim-online-mendelian-inheritance-in-man","display_name":"OMIM : Online Mendelian Inheritance in Man","score":0.433136910200119},{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.39290380477905273}],"concepts":[{"id":"https://openalex.org/C116834253","wikidata":"https://www.wikidata.org/wiki/Q2039217","display_name":"Identification (biology)","level":2,"score":0.6314367055892944},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.6061811447143555},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.581813395023346},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.58150315284729},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5555934906005859},{"id":"https://openalex.org/C69991583","wikidata":"https://www.wikidata.org/wiki/Q1423575","display_name":"Candidate gene","level":3,"score":0.5274814963340759},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.511242151260376},{"id":"https://openalex.org/C197077220","wikidata":"https://www.wikidata.org/wiki/Q720988","display_name":"Human genome","level":4,"score":0.4506261646747589},{"id":"https://openalex.org/C191791410","wikidata":"https://www.wikidata.org/wiki/Q241953","display_name":"OMIM : Online Mendelian Inheritance in Man","level":4,"score":0.433136910200119},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.39290380477905273},{"id":"https://openalex.org/C59822182","wikidata":"https://www.wikidata.org/wiki/Q441","display_name":"Botany","level":1,"score":0.0}],"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":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","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":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020869","descriptor_name":"Gene Expression Profiling","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D020869","descriptor_name":"Gene Expression Profiling","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D020869","descriptor_name":"Gene Expression Profiling","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D038901","descriptor_name":"X-Linked Intellectual Disability","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D038901","descriptor_name":"Mental Retardation, X-Linked","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D038901","descriptor_name":"X-Linked Intellectual Disability","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D041321","descriptor_name":"Chromosomes, Human, X","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D041321","descriptor_name":"Chromosomes, Human, X","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D041321","descriptor_name":"Chromosomes, Human, X","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"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":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1093/bioinformatics/btq396","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btq396","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/26/18/i618/16896053/btq396.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":"pmid:20823330","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/20823330","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:pubmedcentral.nih.gov:2935433","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2935433","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":"doi:10.1093/bioinformatics/btq396","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btq396","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/26/18/i618/16896053/btq396.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":[],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2113497138.pdf","grobid_xml":"https://content.openalex.org/works/W2113497138.grobid-xml"},"referenced_works_count":45,"referenced_works":["https://openalex.org/W1487810807","https://openalex.org/W1599833391","https://openalex.org/W1974024841","https://openalex.org/W1985966348","https://openalex.org/W1988741762","https://openalex.org/W1999595280","https://openalex.org/W2006896953","https://openalex.org/W2016824329","https://openalex.org/W2020301095","https://openalex.org/W2033757574","https://openalex.org/W2034514059","https://openalex.org/W2037844360","https://openalex.org/W2048148485","https://openalex.org/W2052193270","https://openalex.org/W2053278893","https://openalex.org/W2059682917","https://openalex.org/W2067498074","https://openalex.org/W2070448217","https://openalex.org/W2075043084","https://openalex.org/W2087579842","https://openalex.org/W2096525273","https://openalex.org/W2104261859","https://openalex.org/W2105813018","https://openalex.org/W2108181223","https://openalex.org/W2109555487","https://openalex.org/W2109847775","https://openalex.org/W2114319457","https://openalex.org/W2123323528","https://openalex.org/W2123491442","https://openalex.org/W2128016314","https://openalex.org/W2131709305","https://openalex.org/W2133219389","https://openalex.org/W2135859936","https://openalex.org/W2136514583","https://openalex.org/W2152231606","https://openalex.org/W2154654747","https://openalex.org/W2156443053","https://openalex.org/W2156750171","https://openalex.org/W2161482120","https://openalex.org/W2164683872","https://openalex.org/W2170076251","https://openalex.org/W2616754551","https://openalex.org/W4231041617","https://openalex.org/W4254753097","https://openalex.org/W6669611529"],"related_works":["https://openalex.org/W1969895229","https://openalex.org/W2108497208","https://openalex.org/W2762553542","https://openalex.org/W2084022113","https://openalex.org/W2053767652","https://openalex.org/W2064330140","https://openalex.org/W3096901647","https://openalex.org/W2802498898","https://openalex.org/W4377014010","https://openalex.org/W4313396096"],"abstract_inverted_index":{"MOTIVATION:":[0],"The":[1],"identification":[2],"of":[3,21,25,44,50,69,85,105,129,146],"genes":[4],"involved":[5],"in":[6],"specific":[7],"phenotypes,":[8,112],"such":[9,32],"as":[10,33],"human":[11,116],"hereditary":[12],"diseases,":[13],"often":[14],"requires":[15],"the":[16,41,48,83,94,103,127,134,137],"time-consuming":[17],"and":[18,36,87,149],"expensive":[19],"examination":[20],"a":[22,66,141],"large":[23],"number":[24],"positional":[26,52,89],"candidates":[27,53],"selected":[28],"by":[29],"genome-wide":[30],"techniques":[31],"linkage":[34],"analysis":[35,68],"association":[37],"studies.":[38],"Even":[39],"considering":[40],"positive":[42],"impact":[43],"next-generation":[45],"sequencing":[46],"technologies,":[47],"prioritization":[49],"these":[51],"may":[54],"be":[55,99],"an":[56,76],"important":[57],"step":[58],"for":[59,82,102,110,115],"disease-gene":[60],"identification.":[61],"RESULTS:":[62],"Here,":[63],"we":[64],"report":[65],"large-scale":[67,143],"spatial,":[70],"i.e.":[71],"3D,":[72],"gene-expression":[73,96],"data":[74],"from":[75,140],"entire":[77],"organ":[78],"(the":[79],"mouse":[80,111],"brain)":[81],"purpose":[84],"evaluating":[86],"ranking":[88],"candidate":[90],"genes,":[91],"showing":[92],"that":[93],"spatial":[95],"patterns":[97],"can":[98],"successfully":[100],"exploited":[101],"prediction":[104],"gene-phenotype":[106],"associations":[107],"not":[108],"only":[109],"but":[113],"also":[114],"central":[117],"nervous":[118],"system-related":[119],"Mendelian":[120],"disorders.":[121],"We":[122],"apply":[123],"our":[124],"method":[125],"to":[126,136],"case":[128],"X-linked":[130],"mental":[131],"retardation,":[132],"compare":[133],"predictions":[135],"results":[138],"obtained":[139],"previous":[142],"resequencing":[144],"study":[145],"chromosome":[147],"X":[148],"discuss":[150],"some":[151],"promising":[152],"novel":[153],"candidates.":[154]},"counts_by_year":[{"year":2018,"cited_by_count":1},{"year":2016,"cited_by_count":2},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":2},{"year":2012,"cited_by_count":4}],"updated_date":"2026-04-28T14:05:53.105641","created_date":"2025-10-10T00:00:00"}