{"id":"https://openalex.org/W7027409751","doi":null,"title":"Characterizing transcriptome variation in human populations at single-cell resolution","display_name":"Characterizing transcriptome variation in human populations at single-cell resolution","publication_year":2022,"publication_date":"2022-05-01","ids":{"openalex":"https://openalex.org/W7027409751"},"language":"en","primary_location":{"id":"pmh:oai:upcommons.upc.edu:2117/381173","doi":null,"is_oa":true,"landing_page_url":"https://hdl.handle.net/2117/381173","pdf_url":null,"source":{"id":"https://openalex.org/S4377196262","display_name":"UPCommons institutional repository (Universitat Polit\u00e8cnica de Catalunya)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I9617848","host_organization_name":"Universitat Polit\u00e8cnica de Catalunya","host_organization_lineage":["https://openalex.org/I9617848"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Conference report"},"volume":null,"type":"conference-paper","is_traditional":true,"indexed_in":[],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://hdl.handle.net/2117/381173","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5036003083","display_name":"Ruben Chazarra-Gil","orcid":"https://orcid.org/0000-0002-8016-3613","observed_orcids":["https://orcid.org/0000-0002-8016-3613"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Chazarra-Gil, Ruben","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5075475597","display_name":"Marta Mel\u00e9","orcid":"https://orcid.org/0000-0001-8874-6453","observed_orcids":["https://orcid.org/0000-0001-8874-6453"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Mel\u00e9, Marta","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.53643941,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":true,"primary_topic":{"id":"https://openalex.org/T11289","display_name":"Single-cell and spatial transcriptomics","score":0.5717999935150146,"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/T11289","display_name":"Single-cell and spatial transcriptomics","score":0.5717999935150146,"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":0.26170000433921814,"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/T11764","display_name":"Evolution and Genetic Dynamics","score":0.018200000748038292,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/transcriptome-variation","display_name":"transcriptome variation","score":0.8330000042915344},{"id":"https://openalex.org/keywords/human-genetic-ancestry","display_name":"human genetic ancestry","score":0.6579999923706055},{"id":"https://openalex.org/keywords/single-cell-rna-sequencing","display_name":"single-cell RNA sequencing","score":0.8059999942779541},{"id":"https://openalex.org/keywords/innate-immunity","display_name":"innate immunity","score":0.6119999885559082},{"id":"https://openalex.org/keywords/monocytes","display_name":"monocytes","score":0.7889999747276306},{"id":"https://openalex.org/keywords/expression-quantitative-trait-loci","display_name":"expression quantitative trait loci","score":0.6859999895095825},{"id":"https://openalex.org/keywords/alternative-splicing","display_name":"alternative splicing","score":0.6610000133514404},{"id":"https://openalex.org/keywords/interferon-response","display_name":"interferon response","score":0.7549999952316284},{"id":"https://openalex.org/keywords/influenza-a-virus","display_name":"influenza A virus","score":0.7559999823570251},{"id":"https://openalex.org/keywords/personalized-medicine","display_name":"personalized medicine","score":0.6819999814033508}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7605999708175659},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5870000123977661},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.5015000104904175},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.4966000020503998},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.49399998784065247},{"id":"https://openalex.org/C40583040","wikidata":"https://www.wikidata.org/wiki/Q1502105","display_name":"Human genetic variation","level":5,"score":0.4691999852657318},{"id":"https://openalex.org/C68873052","wikidata":"https://www.wikidata.org/wiki/Q349856","display_name":"Genetic variation","level":3,"score":0.46869999170303345},{"id":"https://openalex.org/C8891405","wikidata":"https://www.wikidata.org/wiki/Q1059","display_name":"Immune system","level":2,"score":0.4334999918937683},{"id":"https://openalex.org/C47042493","wikidata":"https://www.wikidata.org/wiki/Q265799","display_name":"Human genetics","level":3,"score":0.4104999899864197},{"id":"https://openalex.org/C78458016","wikidata":"https://www.wikidata.org/wiki/Q840400","display_name":"Evolutionary biology","level":1,"score":0.4025999903678894},{"id":"https://openalex.org/C136449434","wikidata":"https://www.wikidata.org/wiki/Q428253","display_name":"Innate immune system","level":3,"score":0.3634999990463257},{"id":"https://openalex.org/C75268714","wikidata":"https://www.wikidata.org/wiki/Q43478","display_name":"Natural selection","level":3,"score":0.3571999967098236},{"id":"https://openalex.org/C172777353","wikidata":"https://www.wikidata.org/wiki/Q1374271","display_name":"Genetic variability","level":4,"score":0.34150001406669617},{"id":"https://openalex.org/C162317418","wikidata":"https://www.wikidata.org/wiki/Q252857","display_name":"Transcriptome","level":4,"score":0.3312000036239624},{"id":"https://openalex.org/C197077220","wikidata":"https://www.wikidata.org/wiki/Q720988","display_name":"Human genome","level":4,"score":0.3285999894142151},{"id":"https://openalex.org/C194583182","wikidata":"https://www.wikidata.org/wiki/Q21114084","display_name":"Alternative splicing","level":4,"score":0.32820001244544983},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.3280999958515167},{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.32260000705718994},{"id":"https://openalex.org/C81941488","wikidata":"https://www.wikidata.org/wiki/Q853421","display_name":"Quantitative trait locus","level":3,"score":0.3127000033855438},{"id":"https://openalex.org/C54458228","wikidata":"https://www.wikidata.org/wiki/Q237218","display_name":"RNA splicing","level":4,"score":0.2980000078678131},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.29490000009536743},{"id":"https://openalex.org/C186413461","wikidata":"https://www.wikidata.org/wiki/Q744727","display_name":"Genetic association","level":5,"score":0.29159998893737793},{"id":"https://openalex.org/C2993967602","wikidata":"https://www.wikidata.org/wiki/Q5532932","display_name":"Genetic variants","level":4,"score":0.27869999408721924},{"id":"https://openalex.org/C2522874641","wikidata":"https://www.wikidata.org/wiki/Q808","display_name":"Virus","level":2,"score":0.2761000096797943},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.27390000224113464},{"id":"https://openalex.org/C524204448","wikidata":"https://www.wikidata.org/wiki/Q788926","display_name":"Infectious disease (medical specialty)","level":3,"score":0.26739999651908875},{"id":"https://openalex.org/C64618202","wikidata":"https://www.wikidata.org/wiki/Q3733697","display_name":"Genetic heterogeneity","level":4,"score":0.26440000534057617},{"id":"https://openalex.org/C2776178377","wikidata":"https://www.wikidata.org/wiki/Q188269","display_name":"Interferon","level":2,"score":0.2612000107765198},{"id":"https://openalex.org/C168393362","wikidata":"https://www.wikidata.org/wiki/Q5421706","display_name":"Expression quantitative trait loci","level":5,"score":0.258899986743927},{"id":"https://openalex.org/C189206191","wikidata":"https://www.wikidata.org/wiki/Q222046","display_name":"Genomics","level":4,"score":0.25609999895095825},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.25429999828338623}],"mesh":[],"locations_count":1,"locations":[{"id":"pmh:oai:upcommons.upc.edu:2117/381173","doi":null,"is_oa":true,"landing_page_url":"https://hdl.handle.net/2117/381173","pdf_url":null,"source":{"id":"https://openalex.org/S4377196262","display_name":"UPCommons institutional repository (Universitat Polit\u00e8cnica de Catalunya)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I9617848","host_organization_name":"Universitat Polit\u00e8cnica de Catalunya","host_organization_lineage":["https://openalex.org/I9617848"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Conference report"}],"best_oa_location":{"id":"pmh:oai:upcommons.upc.edu:2117/381173","doi":null,"is_oa":true,"landing_page_url":"https://hdl.handle.net/2117/381173","pdf_url":null,"source":{"id":"https://openalex.org/S4377196262","display_name":"UPCommons institutional repository (Universitat Polit\u00e8cnica de Catalunya)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I9617848","host_organization_name":"Universitat Polit\u00e8cnica de Catalunya","host_organization_lineage":["https://openalex.org/I9617848"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Conference report"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9537000060081482}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W7223140197","https://openalex.org/W6945870750","https://openalex.org/W4405044821","https://openalex.org/W7096476034","https://openalex.org/W2480578510","https://openalex.org/W4400180059","https://openalex.org/W3084059622","https://openalex.org/W4400729285","https://openalex.org/W7152136574","https://openalex.org/W4213316347"],"abstract_inverted_index":{"Phenotypic":[0],"diversity":[1],"in":[2,14,41,56,65,68,74,82,113,151,242,259,270,274,291,321],"human":[3,148,197,307,342,353],"populations":[4,126,149,198],"is":[5,53,226,284],"a":[6,51,57,110,139,174,285],"direct":[7],"consequence":[8],"of":[9,127,141,188,196,209,256,288,302,306,330,336,352],"genetic":[10,129,282,309,343],"variation,":[11,24],"which":[12,158,225],"acts":[13],"conjunction":[15],"with":[16,229,234,244],"environmental":[17],"and":[18,28,33,99,164,313,320],"behavioral":[19],"factors":[20],"to":[21,30,35,84,155,191,261,293,323],"produce":[22],"phenotypic":[23,121],"from":[25,125,135,341],"eye":[26],"color":[27],"height":[29],"disease":[31,52,73,312,314],"susceptibility":[32],"responses":[34,154,276],"drugs":[36,85],"(1).":[37],"High":[38],"population-specific":[39],"variability":[40],"disease\u2019s":[42],"prevalence":[43],"have":[44,86,145,165],"been":[45,87,109,166,249],"described,":[46],"including":[47],"multiple":[48],"examples":[49],"where":[50],"strongly":[54,227],"overrepresented":[55],"single":[58],"population,":[59],"for":[60,89,96,316,327],"instance":[61],"sickle":[62],"cell":[63,218],"anemia":[64],"Africans,":[66],"hemochromatosis":[67],"Northern-Europeans":[69],"or":[70,101],"familial":[71],"Gaucher\u2019s":[72],"Ashkenazi":[75],"Jews":[76],"(2).":[77],"In":[78,104,172,295],"addition,":[79,173],"population":[80,257,272,308],"differences":[81,122,258,273,290,339],"response":[83,216,224,260,292,315],"documented,":[88],"instance,":[90],"5-Fluorouracil":[91],"(cancer":[92],"chemotherapeutic),":[93],"Warfarin":[94],"(anticoagulant":[95],"preventing":[97],"thrombosis":[98],"embolism)":[100],"nicotine":[102],"(3).":[103],"this":[105],"context,":[106],"there":[107],"has":[108,248],"growing":[111],"interest":[112],"profiling":[114],"the":[115,186,193,210,214,264,300,304,325,328,334,337,350],"molecular":[116],"causes":[117],"underlying":[118],"infectious":[119],"disease-related":[120],"across":[123],"individuals":[124],"different":[128],"backgrounds.":[130],"Studies":[131],"using":[132,203],"RNA-seq":[133,205],"data":[134],"primary":[136],"monocytes,":[137],"as":[138],"model":[140],"an":[142],"innate":[143],"immunity,":[144],"shown":[146],"that":[147,207,251,281],"differ":[150],"their":[152],"transcriptional":[153],"immune":[156,183,215,275],"challenges,":[157],"are":[159,217],"largely":[160],"controlled":[161],"by":[162,168,268],"genetics":[163,269],"shaped":[167],"natural":[169],"selection":[170,190],"(4).":[171],"similar":[175],"work":[176],"focusing":[177],"on":[178,213],"alternative":[179],"splicing":[180,194],"characterisation":[181,335],"upon":[182],"activation":[184],"highlights":[185],"contribution":[187],"positive":[189],"diversify":[192],"landscape":[195],"(5).":[199],"Moreover,":[200,333],"additional":[201],"works":[202],"single-cell":[204],"indicate":[206],"most":[208],"ancestry":[211,231,283],"effects":[212],"type":[219],"specific,":[220],"exceptuating":[221],"interferon":[222],"(IFN)":[223],"correlated":[228],"European":[230],"after":[232],"infection":[233],"influenza":[235],"A":[236],"virus":[237],"(Figure":[238],"1)":[239],"(6).":[240,277],"Also":[241],"line":[243],"previous":[245],"evidence,":[246],"it":[247],"seen":[250],"eQTLs":[252],"explains":[253],">":[254],"50%":[255],"infection,":[262],"stressing":[263],"key":[265],"role":[266],"played":[267],"shaping":[271],"This":[278],"evidence":[279],"suggests":[280],"main":[286],"driver":[287],"inter-individual":[289],"infection.":[294],"turn,":[296],"these":[297],"findings":[298],"highlight":[299],"importance":[301],"studying":[303],"effect":[305],"variation":[310,344],"over":[311],"developing":[317],"effective":[318],"treatments,":[319],"order":[322],"lay":[324],"foundations":[326],"establishment":[329],"personalized":[331],"medicine.":[332],"transcriptome":[338],"derived":[340],"can":[345],"provide":[346],"further":[347],"insights":[348],"into":[349],"evolution":[351],"populations.":[354]},"counts_by_year":[],"updated_date":"2026-10-13T10:08:12.033832","created_date":"2025-10-10T00:00:00"}
