{"id":"https://openalex.org/W2536662913","doi":"https://doi.org/10.1016/j.jalz.2016.06.327","title":"O1\u201006\u201005: Polygenic Scoring for Risk Stratification of Future Cognitive Decline in Mild Cognitive Impairment (MCI)","display_name":"O1\u201006\u201005: Polygenic Scoring for Risk Stratification of Future Cognitive Decline in Mild Cognitive Impairment (MCI)","publication_year":2016,"publication_date":"2016-07-01","ids":{"openalex":"https://openalex.org/W2536662913","doi":"https://doi.org/10.1016/j.jalz.2016.06.327","mag":"2536662913"},"language":"en","primary_location":{"id":"doi:10.1016/j.jalz.2016.06.327","doi":"https://doi.org/10.1016/j.jalz.2016.06.327","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.jalz.2016.06.327","pdf_url":null,"source":{"id":"https://openalex.org/S108427512","display_name":"Alzheimer s & Dementia","issn_l":"1552-5260","issn":["1552-5260","1552-5279"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-3","ki-jl-3","medline","norway-1","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Alzheimer's &amp; Dementia","raw_type":"journal-article"},"volume":null,"type":"article","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/A5071383564","display_name":"Maryam Shoai","orcid":"https://orcid.org/0000-0003-2499-8533","observed_orcids":["https://orcid.org/0000-0003-2499-8533"]},"institutions":[{"id":"https://openalex.org/I4405260083","display_name":"UCL Queen Square Institute of Neurology","ror":"https://ror.org/0370htr03","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":true,"raw_author_name":"Maryam Shoai","raw_affiliation_strings":["UCL Institute of Neurology, London, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"UCL Institute of Neurology, London, United Kingdom","institution_ids":["https://openalex.org/I4405260083","https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027152344","display_name":"Valentina Escott\u2010Price","orcid":"https://orcid.org/0000-0003-1784-5483","observed_orcids":["https://orcid.org/0000-0003-1784-5483"]},"institutions":[{"id":"https://openalex.org/I79510175","display_name":"Cardiff University","ror":"https://ror.org/03kk7td41","country_code":"GB","type":"education","lineage":["https://openalex.org/I79510175"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Valentina Escott-Price","raw_affiliation_strings":["MRC Centre for Neuropsychiatric Genetics &amp; Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University Cardiff United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"MRC Centre for Neuropsychiatric Genetics &amp; Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University Cardiff United Kingdom","institution_ids":["https://openalex.org/I79510175"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020439447","display_name":"Richard J. Pither","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Richard Pither","raw_affiliation_strings":["Cytox Ltd, Oxford, United Kingdom, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cytox Ltd, Oxford, United Kingdom, UK","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5081791392","display_name":"Julie Davis","orcid":"https://orcid.org/0000-0002-9634-7652","observed_orcids":["https://orcid.org/0000-0002-9634-7652"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Julie Davis","raw_affiliation_strings":["Cytox Ltd, Oxford, United Kingdom, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cytox Ltd, Oxford, United Kingdom, UK","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084206283","display_name":"Simon Matthew Laws","orcid":"https://orcid.org/0000-0002-4355-7082","observed_orcids":["https://orcid.org/0000-0002-4355-7082"]},"institutions":[{"id":"https://openalex.org/I12079687","display_name":"Edith Cowan University","ror":"https://ror.org/05jhnwe22","country_code":"AU","type":"education","lineage":["https://openalex.org/I12079687"]},{"id":"https://openalex.org/I4210130318","display_name":"Cooperative Research Centre for Mental Health","ror":"https://ror.org/03f37fg05","country_code":"AU","type":"facility","lineage":["https://openalex.org/I4210130318"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Simon M. Laws","raw_affiliation_strings":["Cooperative Research Centre for Mental Health, Melbourne, Australia","Edith Cowan University, Perth, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cooperative Research Centre for Mental Health, Melbourne, Australia","institution_ids":["https://openalex.org/I4210130318"]},{"raw_affiliation_string":"Edith Cowan University, Perth, Australia","institution_ids":["https://openalex.org/I12079687"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5020514779","display_name":"John Hardy","orcid":"https://orcid.org/0000-0002-3122-0423","observed_orcids":["https://orcid.org/0000-0002-3122-0423"]},"institutions":[{"id":"https://openalex.org/I4405260083","display_name":"UCL Queen Square Institute of Neurology","ror":"https://ror.org/0370htr03","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"John Hardy","raw_affiliation_strings":["UCL Institute of Neurology, London, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"UCL Institute of Neurology, London, United Kingdom","institution_ids":["https://openalex.org/I4405260083","https://openalex.org/I45129253"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5071383564"],"corresponding_institution_ids":["https://openalex.org/I4405260083","https://openalex.org/I45129253"],"apc_list":{"value":4200,"currency":"USD","value_usd":4200},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.16983884,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"12","issue":"7S_Part_4","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10009","display_name":"Dementia and Cognitive Impairment Research","score":0.7188000082969666,"subfield":{"id":"https://openalex.org/subfields/2738","display_name":"Psychiatry and Mental health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10009","display_name":"Dementia and Cognitive Impairment Research","score":0.7188000082969666,"subfield":{"id":"https://openalex.org/subfields/2738","display_name":"Psychiatry and Mental health"},"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/T10086","display_name":"Alzheimer's disease research and treatments","score":0.2678000032901764,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology (medical)"},"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/T10261","display_name":"Genetic Associations and Epidemiology","score":0.007499999832361937,"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/polygenic-risk-score","display_name":"polygenic risk score","score":0.9240000247955322},{"id":"https://openalex.org/keywords/mild-cognitive-impairment","display_name":"mild cognitive impairment","score":0.949999988079071}],"concepts":[{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.5407322645187378},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.48066818714141846},{"id":"https://openalex.org/C72563966","wikidata":"https://www.wikidata.org/wiki/Q1303415","display_name":"Cohort","level":2,"score":0.47023245692253113},{"id":"https://openalex.org/C139275648","wikidata":"https://www.wikidata.org/wiki/Q17134011","display_name":"SNP","level":5,"score":0.4633072018623352},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4537397623062134},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.43739867210388184},{"id":"https://openalex.org/C2993137441","wikidata":"https://www.wikidata.org/wiki/Q28135712","display_name":"Polygenic risk score","level":5,"score":0.43296435475349426},{"id":"https://openalex.org/C177264268","wikidata":"https://www.wikidata.org/wiki/Q1514741","display_name":"Set (abstract data type)","level":2,"score":0.43181487917900085},{"id":"https://openalex.org/C2984915365","wikidata":"https://www.wikidata.org/wiki/Q5141203","display_name":"Cognitive impairment","level":3,"score":0.41645684838294983},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.4081456661224365},{"id":"https://openalex.org/C143998085","wikidata":"https://www.wikidata.org/wiki/Q162555","display_name":"Oncology","level":1,"score":0.3623623847961426},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.3465030789375305},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.30720579624176025},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.24536851048469543},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.23669764399528503},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.2193068265914917},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.17636051774024963},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.13801300525665283},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.12217274308204651},{"id":"https://openalex.org/C199360897","wikidata":"https://www.wikidata.org/wiki/Q9143","display_name":"Programming language","level":1,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1016/j.jalz.2016.06.327","doi":"https://doi.org/10.1016/j.jalz.2016.06.327","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.jalz.2016.06.327","pdf_url":null,"source":{"id":"https://openalex.org/S108427512","display_name":"Alzheimer s & Dementia","issn_l":"1552-5260","issn":["1552-5260","1552-5279"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-3","ki-jl-3","medline","norway-1","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Alzheimer's &amp; Dementia","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.98580002784729,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2470628318","https://openalex.org/W2535648024","https://openalex.org/W3113192810","https://openalex.org/W2301413049","https://openalex.org/W2586290911","https://openalex.org/W2534885999","https://openalex.org/W4406209518","https://openalex.org/W4312087255","https://openalex.org/W2495168753","https://openalex.org/W2765460006"],"abstract_inverted_index":{"In":[0,48,75],"recent":[1],"months":[2],"various":[3],"studies":[4],"have":[5],"revealed":[6],"the":[7,25,40,66,165,167,183,193],"possibility":[8],"of":[9,21,27,32,46,58,68,95,115,143,198,205,215],"treating":[10],"mild":[11],"Alzheimer\u2019s":[12],"Disease":[13],"cases":[14,120,147,155,189],"with":[15,227,247],"experimental":[16],"drugs":[17],"that":[18,53,213],"target":[19],"clearance":[20],"amyloid":[22],"plaques.":[23],"Hence":[24],"identification":[26],"subjects":[28],"at":[29],"high":[30,228],"risk":[31,168,185],"AD":[33,73,83,208],"is":[34,161,178,230,236],"likely":[35],"to":[36,71,81,163,180,222,238],"be":[37,62,79,252],"important":[38],"for":[39],"early":[41],"diagnosis":[42],"and":[43,91,121,125,148,150,156,171,190,203,209,219,243],"successful":[44],"treatment":[45],"AD.":[47],"this":[49,77,101],"study":[50],"we":[51],"propose":[52],"a":[54,113,151,216,231],"carefully":[55],"selected":[56,153],"set":[57,177],"genetic":[59,173],"markers":[60],"can":[61],"used":[63,162,179],"ultimately,":[64],"in":[65,112,188,192],"definition":[67,214],"an":[69],"algorithm":[70,221],"predict":[72],"progression.":[74],"turn,":[76],"would":[78],"expected":[80,96],"facilitate":[82],"clinical":[84,249],"trials":[85],"by":[86],"reducing":[87],"both":[88],"misdiagnosis":[89],"rates":[90],"enabling":[92],"better":[93],"prediction":[94],"disease":[97],"progression":[98],"rates.":[99],"To":[100],"effect,":[102],"DNA":[103],"sequence":[104],"variants,":[105],"identified":[106],"using":[107,130],"whole":[108],"exome":[109,128],"sequencing,":[110,129],"present":[111],"cohort":[114],"400":[116,138],"meticulously":[117],"clinically":[118],"characterised":[119],"controls":[122,191],"were":[123],"analysed":[124],"assessed.":[126],"Whole":[127],"Agilent\u2019s":[131],"SureSelect":[132],"V5,":[133],"was":[134],"performed":[135],"on":[136,207],"all":[137],"samples.":[139],"The":[140,158,175,196],"dataset":[141,160],"comprised":[142],"two":[144,225],"segments,":[145],"300":[146],"controls,":[149],"randomly":[152],"100":[154],"controls.":[157],"first":[159],"select":[164],"SNPs,":[166],"score":[169],"alleles":[170],"their":[172],"effects.":[174],"second":[176],"test":[181,194],"whether":[182,240],"polygenic":[184],"scores":[186],"differ":[187],"set.":[195],"output":[197],"our":[199],"preliminary":[200],"statistical":[201],"analysis":[202],"modelling":[204],"data":[206],"control":[210],"subjects,":[211],"suggests":[212],"SNP":[217],"panel":[218],"associated":[220],"distinguish":[223],"these":[224],"groups":[226],"accuracy":[229],"possible":[232],"task.":[233],"Further":[234],"work":[235],"ongoing":[237],"assess":[239],"sufficient":[241],"sensitivity":[242],"specificity":[244],"performance":[245],"consistent":[246],"potential":[248],"utility,":[250],"could":[251],"achieved.":[253]},"counts_by_year":[],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-10-28T00:00:00"}
