{"id":"https://openalex.org/W4294597485","doi":"https://doi.org/10.1016/j.nephro.2022.07.381","title":"L\u2019utilisation de l\u2019exome dans l\u2019exploration des n\u00e9phropathies ind\u00e9termin\u00e9es et la gestion des variants de significations incertaines : l\u2019exemple du g\u00e8ne HNF1B dans la cohorte cal\u00e9donienne","display_name":"L\u2019utilisation de l\u2019exome dans l\u2019exploration des n\u00e9phropathies ind\u00e9termin\u00e9es et la gestion des variants de significations incertaines : l\u2019exemple du g\u00e8ne HNF1B dans la cohorte cal\u00e9donienne","publication_year":2022,"publication_date":"2022-09-01","ids":{"openalex":"https://openalex.org/W4294597485","doi":"https://doi.org/10.1016/j.nephro.2022.07.381"},"language":"fr","primary_location":{"id":"doi:10.1016/j.nephro.2022.07.381","doi":"https://doi.org/10.1016/j.nephro.2022.07.381","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.nephro.2022.07.381","pdf_url":null,"source":{"id":"https://openalex.org/S149374293","display_name":"N\u00e9phrologie & Th\u00e9rapeutique","issn_l":"1769-7255","issn":["1769-7255","1872-9177"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","poland-20","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"N\u00e9phrologie & Th\u00e9rapeutique","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref"],"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/A5035472704","display_name":"David De Saint Gilles","orcid":"https://orcid.org/0009-0000-8337-016X","observed_orcids":["https://orcid.org/0009-0000-8337-016X"]},"institutions":[{"id":"https://openalex.org/I4210166768","display_name":"H\u00f4pital Tenon","ror":"https://ror.org/05h5v3c50","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210166768"]}],"countries":["FR"],"is_corresponding":true,"raw_author_name":"D. De Saint Gilles","raw_affiliation_strings":["Soins intensifs n\u00e9phrologiques et rein aigu, h\u00f4pital Tenon, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Soins intensifs n\u00e9phrologiques et rein aigu, h\u00f4pital Tenon, Paris, France","institution_ids":["https://openalex.org/I4210166768"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102833031","display_name":"Nicolas Quirin","orcid":"https://orcid.org/0000-0002-2664-4811","observed_orcids":["https://orcid.org/0000-0002-2664-4811"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"N. Quirin","raw_affiliation_strings":["M\u00e9dipole, Dumb\u00e9a-sur-Mer, Nouvelle-Cal\u00e9donie"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"M\u00e9dipole, Dumb\u00e9a-sur-Mer, Nouvelle-Cal\u00e9donie","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040184602","display_name":"Christine Bellann\u00e9\u2010Chantelot","orcid":"https://orcid.org/0000-0001-8415-6771","observed_orcids":["https://orcid.org/0000-0001-8415-6771"]},"institutions":[{"id":"https://openalex.org/I4210121705","display_name":"Piti\u00e9-Salp\u00eatri\u00e8re Hospital","ror":"https://ror.org/02mh9a093","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"C. Bellann\u00e9-Chantelot","raw_affiliation_strings":["D\u00e9partement de g\u00e9n\u00e9tique m\u00e9dicale, Piti\u00e9 Salp\u00e9tri\u00e8re, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"D\u00e9partement de g\u00e9n\u00e9tique m\u00e9dicale, Piti\u00e9 Salp\u00e9tri\u00e8re, Paris, France","institution_ids":["https://openalex.org/I4210121705"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112880002","display_name":"Marine Serveaux Dancer","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210155911","display_name":"Eurofins (France)","ror":"https://ror.org/04mdycw91","country_code":"FR","type":"company","lineage":["https://openalex.org/I4210150086","https://openalex.org/I4210155911"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"M. Serveaux Dancer","raw_affiliation_strings":["D\u00e9partement de g\u00e9n\u00e9tique, Eurofins Biomnis, Lyon, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"D\u00e9partement de g\u00e9n\u00e9tique, Eurofins Biomnis, Lyon, France","institution_ids":["https://openalex.org/I4210155911"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5007547277","display_name":"Yves Doussy","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Y. Doussy","raw_affiliation_strings":["Atir, Noum\u00e9a, Nouvelle-Cal\u00e9donie"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Atir, Noum\u00e9a, Nouvelle-Cal\u00e9donie","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5071345956","display_name":"Thomas Lamy","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"T. Lamy","raw_affiliation_strings":["M\u00e9dipole, Dumb\u00e9a-sur-Mer, Nouvelle-Cal\u00e9donie"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"M\u00e9dipole, Dumb\u00e9a-sur-Mer, Nouvelle-Cal\u00e9donie","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5049105566","display_name":"Laure Raymond","orcid":"https://orcid.org/0000-0002-6967-0972","observed_orcids":["https://orcid.org/0000-0002-6967-0972"]},"institutions":[{"id":"https://openalex.org/I4210155911","display_name":"Eurofins (France)","ror":"https://ror.org/04mdycw91","country_code":"FR","type":"company","lineage":["https://openalex.org/I4210150086","https://openalex.org/I4210155911"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"L. Raymond","raw_affiliation_strings":["D\u00e9partement de g\u00e9n\u00e9tique, Eurofins Biomnis, Lyon, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"D\u00e9partement de g\u00e9n\u00e9tique, Eurofins Biomnis, Lyon, France","institution_ids":["https://openalex.org/I4210155911"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101994746","display_name":"Laurent Mesnard","orcid":"https://orcid.org/0000-0002-0339-3757","observed_orcids":["https://orcid.org/0000-0002-0339-3757"]},"institutions":[{"id":"https://openalex.org/I4210166768","display_name":"H\u00f4pital Tenon","ror":"https://ror.org/05h5v3c50","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210166768"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"L. Mesnard","raw_affiliation_strings":["Soins intensifs n\u00e9phrologiques et rein aigu, h\u00f4pital Tenon, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Soins intensifs n\u00e9phrologiques et rein aigu, h\u00f4pital Tenon, Paris, France","institution_ids":["https://openalex.org/I4210166768"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5084868023","display_name":"Alice Doreille","orcid":"https://orcid.org/0000-0002-5145-5000","observed_orcids":["https://orcid.org/0000-0002-5145-5000"]},"institutions":[{"id":"https://openalex.org/I4210166768","display_name":"H\u00f4pital Tenon","ror":"https://ror.org/05h5v3c50","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210166768"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"A. Doreille","raw_affiliation_strings":["Soins intensifs n\u00e9phrologiques et rein aigu, h\u00f4pital Tenon, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Soins intensifs n\u00e9phrologiques et rein aigu, h\u00f4pital Tenon, Paris, France","institution_ids":["https://openalex.org/I4210166768"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5035472704"],"corresponding_institution_ids":["https://openalex.org/I4210166768"],"apc_list":{"value":1650,"currency":"USD","value_usd":1650},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"18","issue":"5","first_page":"418","last_page":"418"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.986299991607666,"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":0.986299991607666,"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/T11029","display_name":"Renal Diseases and Glomerulopathies","score":0.003599999938160181,"subfield":{"id":"https://openalex.org/subfields/2727","display_name":"Nephrology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10408","display_name":"Chronic Kidney Disease and Diabetes","score":0.001500000013038516,"subfield":{"id":"https://openalex.org/subfields/2727","display_name":"Nephrology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/hnf1b","display_name":"HNF1B","score":0.8870000243186951},{"id":"https://openalex.org/keywords/variants-of-uncertain-significance","display_name":"variants of uncertain significance","score":0.8920000195503235},{"id":"https://openalex.org/keywords/whole-exome-sequencing","display_name":"exome sequencing","score":0.7689999938011169},{"id":"https://openalex.org/keywords/type-2-diabetes","display_name":"type 2 diabetes","score":0.6579999923706055},{"id":"https://openalex.org/keywords/polynesian-populations","display_name":"Polynesian populations","score":0.5920000076293945},{"id":"https://openalex.org/keywords/melanesian-population","display_name":"Melanesian population","score":0.9729999899864197},{"id":"https://openalex.org/keywords/new-caledonia","display_name":"New Caledonia","score":0.7799999713897705},{"id":"https://openalex.org/keywords/genetic-ancestry","display_name":"genetic ancestry","score":0.3370000123977661},{"id":"https://openalex.org/keywords/variant-reclassification","display_name":"variant reclassification","score":0.6480000019073486},{"id":"https://openalex.org/keywords/incomplete-penetrance","display_name":"incomplete penetrance","score":0.6190000176429749},{"id":"https://openalex.org/keywords/genetic-counseling","display_name":"genetic counseling","score":0.32199999690055847},{"id":"https://openalex.org/keywords/nephrectomy","display_name":"nephrectomy","score":0.32600000500679016}],"concepts":[{"id":"https://openalex.org/C15708023","wikidata":"https://www.wikidata.org/wiki/Q80083","display_name":"Humanities","level":1,"score":0.4944164752960205},{"id":"https://openalex.org/C138885662","wikidata":"https://www.wikidata.org/wiki/Q5891","display_name":"Philosophy","level":0,"score":0.31499120593070984}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1016/j.nephro.2022.07.381","doi":"https://doi.org/10.1016/j.nephro.2022.07.381","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.nephro.2022.07.381","pdf_url":null,"source":{"id":"https://openalex.org/S149374293","display_name":"N\u00e9phrologie & Th\u00e9rapeutique","issn_l":"1769-7255","issn":["1769-7255","1872-9177"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","poland-20","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"N\u00e9phrologie & Th\u00e9rapeutique","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9537000060081482}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W3118478110","https://openalex.org/W2918590829","https://openalex.org/W2891159085","https://openalex.org/W4396990279","https://openalex.org/W148120790","https://openalex.org/W1979427684","https://openalex.org/W2970472454","https://openalex.org/W4294599667","https://openalex.org/W7148826055","https://openalex.org/W2402342798"],"abstract_inverted_index":{"Devant":[0],"une":[1,6,13,143,202,263],"incidence":[2],"\u00e9lev\u00e9e":[3,233,245],"de":[4,9,18,42,44,57,80,93,100,105,123,168,171,214,236,239,256,276,302],"l\u2019IRC,":[5],"nette":[7],"pr\u00e9dominance":[8],"n\u00e9phropathies":[10],"ind\u00e9termin\u00e9es":[11],"et":[12,115,152,225,275],"population":[14],"jeune,":[15],"le":[16],"s\u00e9quen\u00e7age":[17,92],"l\u2019exome":[19],"fait":[20],"d\u00e9sormais":[21],"partie":[22,49],"du":[23,39,65,177,220,273],"panel":[24],"d\u2019explorations":[25],"disponibles":[26],"d\u2019une":[27],"IRC":[28],"en":[29,48,137],"Nouvelle-Cal\u00e9donie.":[30],"Ces":[31,163],"explorations":[32,287],"g\u00e9n\u00e9tiques":[33,288],"se":[34],"heurtent":[35],"\u00e0":[36,201,229,289],"la":[37,71,106,169,208,300],"gestion":[38],"nombre":[40],"important":[41],"variants":[43,165,190],"signification":[45],"incertaine":[46],"(VSI),":[47],"expliqu\u00e9":[50],"par":[51],"l\u2019absence":[52],"d\u2019oc\u00e9anien":[53],"dans":[54,70,246,278,292],"les":[55,83,223],"g\u00e9nomes":[56],"r\u00e9f\u00e9rence.":[58],"Nous":[59],"souhaitons":[60],"ici":[61],"rapporter":[62],"2":[63,164,242],"VSI":[64,79,99,125,255],"g\u00e8ne":[66,178],"HNF1B":[67,179,257],"particuli\u00e8rement":[68],"r\u00e9currents":[69],"cohorte.":[72],"Analyse":[73],"r\u00e9trospective":[74],"des":[75,156,186,197,286],"patients":[76,85,96,121,187],"pr\u00e9sentant":[77],"un":[78,98,148,259],"HNF1B,":[81,101],"parmi":[82],"88":[84],"cal\u00e9doniens":[86],"non":[87,150],"apparent\u00e9s":[88],"ayant":[89],"b\u00e9n\u00e9fici\u00e9":[90],"d\u2019un":[91],"l\u2019exome.":[94],"Dix":[95],"pr\u00e9sentent":[97,141],"soit":[102],"11":[103],"%":[104,146,154],"cohorte":[107],"cal\u00e9donienne":[108],"s\u00e9quenc\u00e9e":[109],":":[110,258],"NM_000458.2:c.780G>C":[111],"(n":[112,117],"=":[113,118],"5)":[114],"NM_000458.2:c.1654-4G>A":[116],"5).":[119],"Les":[120,189],"porteurs":[122],"ces":[124,216,247,253,279,293,303],"sont":[126,166,193],"d\u2019origine":[127],"m\u00e9lan\u00e9sienne":[128],"(40":[129],"%)":[130],"ou":[131,262],"polyn\u00e9sienne":[132],"(60":[133],"%).":[134],"Ils":[135],"ont":[136,147,155],"moyenne":[138],"46":[139],"ans,":[140],"tous":[142],"IRC,":[144],"70":[145,153],"diab\u00e8te":[149,221,274],"immun":[151],"ant\u00e9c\u00e9dents":[157],"familiaux":[158],"d\u2019IRC":[159],"au":[160,268],"premier":[161],"degr\u00e9.":[162],"absents":[167],"base":[170],"donn\u00e9es":[172],"GnomAD.":[173],"Le":[174],"centre":[175],"expert":[176],"a":[180],"uniquement":[181],"retrouv\u00e9":[182],"ce":[183,206],"variant":[184],"chez":[185,222],"polyn\u00e9siens.":[188],"pathog\u00e8nes":[191],"d\u2019HNF1B":[192],"connus":[194],"pour":[195,297],"donner":[196],"ph\u00e9notypes":[198],"variables,":[199],"associ\u00e9s":[200],"p\u00e9n\u00e9trance":[203],"incompl\u00e8te.":[204],"Dans":[205],"contexte,":[207],"co-s\u00e9gr\u00e9gation":[209],"n\u2019a":[210],"pas":[211,213],"permis":[212],"reclasser":[215],"variants.":[217,304],"La":[218],"pr\u00e9valence":[219,272],"Polyn\u00e9siens":[224],"M\u00e9lan\u00e9siens":[226],"est":[227,241],"3":[228],"5":[230],"fois":[231,243],"plus":[232,244],"qu\u2019en":[234],"Europe":[235],"l\u2019Ouest.":[237],"L\u2019incidence":[238],"l\u2019IRC":[240,277],"populations.":[248,280],"Deux":[249],"hypoth\u00e8ses":[250],"\u00e9mergent":[251],"concernant":[252],"deux":[254],"polymorphisme":[260],"local":[261],"variation":[264],"fondatrice":[265],"permettant":[266],"d\u2019expliquer":[267],"moins":[269],"partiellement":[270],"l\u2019importante":[271],"Des":[281],"\u00e9tudes":[282],"fonctionnelles,":[283],"ainsi":[284],"que":[285],"large":[290],"\u00e9chelle":[291],"populations":[294],"seraient":[295],"n\u00e9cessaires":[296],"conclure":[298],"sur":[299],"pathog\u00e9nicit\u00e9":[301]},"counts_by_year":[],"updated_date":"2026-10-12T09:40:04.860316","created_date":"2022-09-05T00:00:00"}