{"id":"https://openalex.org/W1904482650","doi":"https://doi.org/10.1186/1750-1326-8-s1-o12","title":"Genetic analysis of neurodegeneration.. the end game","display_name":"Genetic analysis of neurodegeneration.. the end game","publication_year":2013,"publication_date":"2013-09-01","ids":{"openalex":"https://openalex.org/W1904482650","doi":"https://doi.org/10.1186/1750-1326-8-s1-o12","mag":"1904482650"},"language":"en","primary_location":{"id":"doi:10.1186/1750-1326-8-s1-o12","doi":"https://doi.org/10.1186/1750-1326-8-s1-o12","is_oa":true,"landing_page_url":"https://doi.org/10.1186/1750-1326-8-s1-o12","pdf_url":"https://molecularneurodegeneration.biomedcentral.com/track/pdf/10.1186/1750-1326-8-S1-O12","source":{"id":"https://openalex.org/S40861184","display_name":"Molecular Neurodegeneration","issn_l":"1750-1326","issn":["1750-1326"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","doyens","jufo-3","ki-jl-2","medline","norway-1","oarl","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Neurodegeneration","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://molecularneurodegeneration.biomedcentral.com/track/pdf/10.1186/1750-1326-8-S1-O12","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","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":true,"raw_author_name":"John Hardy","raw_affiliation_strings":["Reta Lilla Weston Research Laboratories and Department of Molecular Neuroscience, UCL Institute of Neurology, London, WC1N 3BG, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Reta Lilla Weston Research Laboratories and Department of Molecular Neuroscience, UCL Institute of Neurology, London, WC1N 3BG, UK","institution_ids":["https://openalex.org/I4405260083","https://openalex.org/I45129253"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5020514779"],"corresponding_institution_ids":["https://openalex.org/I4405260083","https://openalex.org/I45129253"],"apc_list":{"value":3090,"currency":"USD","value_usd":3090},"apc_paid":{"value":3090,"currency":"USD","value_usd":3090},"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.0569889,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"8","issue":"S1","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10086","display_name":"Alzheimer's disease research and treatments","score":0.9702000021934509,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10086","display_name":"Alzheimer's disease research and treatments","score":0.9702000021934509,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.014399999752640724,"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/T10009","display_name":"Dementia and Cognitive Impairment Research","score":0.007600000128149986,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/neurodegenerative-diseases","display_name":"neurodegenerative diseases","score":0.9570000171661377},{"id":"https://openalex.org/keywords/alzheimer-s-disease-genetics","display_name":"Alzheimer's disease genetics","score":0.8650000095367432},{"id":"https://openalex.org/keywords/causative-genes","display_name":"causal genes","score":0.625},{"id":"https://openalex.org/keywords/mendelian-inheritance","display_name":"Mendelian inheritance","score":0.7590000033378601},{"id":"https://openalex.org/keywords/positional-cloning","display_name":"positional cloning","score":0.8849999904632568},{"id":"https://openalex.org/keywords/whole-exome-sequencing","display_name":"exome sequencing","score":0.8309999704360962},{"id":"https://openalex.org/keywords/burden-analysis","display_name":"burden analysis","score":0.9049999713897705},{"id":"https://openalex.org/keywords/genome-wide-association-study","display_name":"genome-wide association study","score":0.9509999752044678},{"id":"https://openalex.org/keywords/trem2","display_name":"TREM2","score":0.7409999966621399},{"id":"https://openalex.org/keywords/app","display_name":"APP","score":0.7549999952316284},{"id":"https://openalex.org/keywords/presenilin-1","display_name":"presenilin 1","score":0.9929999709129333},{"id":"https://openalex.org/keywords/psen2","display_name":"presenilin 2","score":0.9940000176429749},{"id":"https://openalex.org/keywords/apolipoprotein-e","display_name":"apolipoprotein E","score":0.9160000085830688},{"id":"https://openalex.org/keywords/cholesterol-metabolism","display_name":"cholesterol metabolism","score":0.7440000176429749},{"id":"https://openalex.org/keywords/innate-immunity","display_name":"innate immunity","score":0.8240000009536743},{"id":"https://openalex.org/keywords/ubiquitination","display_name":"ubiquitination","score":0.9419999718666077},{"id":"https://openalex.org/keywords/microglial-activation","display_name":"microglial activation","score":0.7889999747276306},{"id":"https://openalex.org/keywords/rare-variants","display_name":"rare variants","score":0.5870000123977661}],"concepts":[{"id":"https://openalex.org/C2776925932","wikidata":"https://www.wikidata.org/wiki/Q1755122","display_name":"Neurodegeneration","level":3,"score":0.7619327306747437},{"id":"https://openalex.org/C16568411","wikidata":"https://www.wikidata.org/wiki/Q83042","display_name":"Neurology","level":2,"score":0.5971232056617737},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.5152835845947266},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4228527843952179},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3366757929325104},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.1561412215232849},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.10605642199516296}],"mesh":[],"locations_count":3,"locations":[{"id":"doi:10.1186/1750-1326-8-s1-o12","doi":"https://doi.org/10.1186/1750-1326-8-s1-o12","is_oa":true,"landing_page_url":"https://doi.org/10.1186/1750-1326-8-s1-o12","pdf_url":"https://molecularneurodegeneration.biomedcentral.com/track/pdf/10.1186/1750-1326-8-S1-O12","source":{"id":"https://openalex.org/S40861184","display_name":"Molecular Neurodegeneration","issn_l":"1750-1326","issn":["1750-1326"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","doyens","jufo-3","ki-jl-2","medline","norway-1","oarl","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Neurodegeneration","raw_type":"journal-article"},{"id":"pmh:oai:europepmc.org:2841122","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3846820","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:3846820","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3846820","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,"listed_in":[],"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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Mol Neurodegener","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1186/1750-1326-8-s1-o12","doi":"https://doi.org/10.1186/1750-1326-8-s1-o12","is_oa":true,"landing_page_url":"https://doi.org/10.1186/1750-1326-8-s1-o12","pdf_url":"https://molecularneurodegeneration.biomedcentral.com/track/pdf/10.1186/1750-1326-8-S1-O12","source":{"id":"https://openalex.org/S40861184","display_name":"Molecular Neurodegeneration","issn_l":"1750-1326","issn":["1750-1326"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","doyens","jufo-3","ki-jl-2","medline","norway-1","oarl","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Neurodegeneration","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9763000011444092}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W1904482650.pdf","grobid_xml":"https://content.openalex.org/works/W1904482650.grobid-xml"},"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2405825843","https://openalex.org/W795586679","https://openalex.org/W2793416367","https://openalex.org/W1985071082","https://openalex.org/W2106353734","https://openalex.org/W2168610099","https://openalex.org/W3087061243","https://openalex.org/W2082524462","https://openalex.org/W2136936410","https://openalex.org/W7066115030"],"abstract_inverted_index":{"In":[0,109],"my":[1],"talk":[2],"I":[3,58,182],"will":[4,59,183],"discuss":[5,184],"how":[6,200],"genetic":[7,208],"analysis":[8,44],"now":[9,119],"allows":[10],"us":[11],"to":[12,95,111],"dissect":[13],"both":[14],"causative":[15],"and":[16,30,42,45,105,107,137,156,187,198],"predisposing":[17],"genes":[18,102,175],"for":[19,64,84,195],"neurodegenerative":[20],"diseases.":[21],"Mendelian":[22],"diseases":[23],"can":[24,36,50,202],"be":[25,37,51],"found":[26,38,52],"by":[27,39,53],"positional":[28],"cloning":[29],"sequencing...":[31],"rare,":[32],"high":[33,168],"risk":[34,48],"variants":[35,49],"exome":[40],"sequencing":[41],"burden":[43],"common":[46],"low":[47],"genome":[54,113],"wide":[55,114],"association":[56,115],"analyses.":[57],"show":[60],"how,":[61],"when":[62],"loci":[63,83,122],"disease":[65],"are":[66,103],"found,":[67],"they":[68],"map":[69,124],"functionally":[70],"into":[71],"specific":[72],"biochemical":[73],"pathway.":[74],"This":[75],"property":[76],"is":[77,89,149,161],"also":[78],"helpful":[79],"in":[80,151,178],"identifying":[81],"new":[82],"which":[85,123,148],"the":[86,98,130,141,152,162,179,190,205],"statistical":[87],"evidence":[88],"less":[90],"than":[91],"convincing.":[92],"With":[93],"regard":[94],"Alzheimer\u2019s":[96],"disease,":[97],"well":[99],"known":[100],"mendelian":[101],"APP":[104],"PSEN1":[106],"PSEN2.":[108],"addition":[110],"apoe,":[112],"studies":[116],"have":[117,176],"identified":[118],"nearly":[120],"20":[121],"onto":[125],"four":[126],"pathways,":[127],"cholesterol":[128],"metabolism,":[129],"innate":[131,153],"immune":[132,154],"system,":[133],"endosomal":[134],"vesicle":[135],"recycling":[136],"protein":[138],"ubiquitination.":[139],"At":[140],"time":[142],"of":[143,158,167,193,207],"writing":[144],"this":[145],"abstract,":[146],"TREM2,":[147],"involved":[150],"system":[155],"control":[157],"miscroglial":[159],"activation":[160],"only":[163],"declared":[164],"rare":[165],"variant":[166],"effect":[169],"(o.r.":[170],"~5),":[171],"but":[172],"several":[173],"other":[174],"data":[177],"publication":[180],"process.":[181],"these":[185],"issues":[186],"update":[188],"on":[189],"current":[191],"state":[192],"play":[194],"Alzheimer":[196],"genetics":[197],"describe":[199],"we":[201],"move":[203],"towards":[204],"completion":[206],"analysis.":[209]},"counts_by_year":[],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}