{"id":"https://openalex.org/W3136691387","doi":null,"title":"Genome-wide Investigation of Rare Genetic Variation in Epilepsy and Autism Spectrum Disorder","display_name":"Genome-wide Investigation of Rare Genetic Variation in Epilepsy and Autism Spectrum Disorder","publication_year":2020,"publication_date":"2020-11-01","ids":{"openalex":"https://openalex.org/W3136691387","mag":"3136691387"},"language":"en","primary_location":{"id":"pmh:oai:utoronto.scholaris.ca:1807/103126","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/1807/103126","pdf_url":"https://utoronto.scholaris.ca/bitstreams/b7e50417-e597-48f8-bdc2-c65a169004d8/download","source":{"id":"https://openalex.org/S4306400261","display_name":"TSpace (University of Toronto)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I185261750","host_organization_name":"University of Toronto","host_organization_lineage":["https://openalex.org/I185261750"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Thesis"},"volume":null,"type":"dissertation","is_traditional":true,"indexed_in":[],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://utoronto.scholaris.ca/bitstreams/b7e50417-e597-48f8-bdc2-c65a169004d8/download","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5082826883","display_name":"Farah Qaiser","orcid":"https://orcid.org/0000-0003-1050-2533","observed_orcids":["https://orcid.org/0000-0003-1050-2533"]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Farah Qaiser","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0003-1050-2533","affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5082826883"],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10094","display_name":"Epilepsy research and treatment","score":0.6747999787330627,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"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/T10094","display_name":"Epilepsy research and treatment","score":0.6747999787330627,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"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/T11642","display_name":"Genomics and Rare Diseases","score":0.24220000207424164,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.03849999979138374,"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/epilepsy","display_name":"epilepsy","score":0.8870000243186951},{"id":"https://openalex.org/keywords/autism-spectrum-disorder","display_name":"autism spectrum disorder","score":1.0},{"id":"https://openalex.org/keywords/rare-variants","display_name":"rare variants","score":0.9459999799728394},{"id":"https://openalex.org/keywords/molecular-diagnosis","display_name":"molecular diagnosis","score":0.8799999952316284},{"id":"https://openalex.org/keywords/additive-genetic-effects","display_name":"additive genetic effects","score":0.5899999737739563},{"id":"https://openalex.org/keywords/whole-genome-sequencing","display_name":"whole genome sequencing","score":0.6850000023841858}],"concepts":[{"id":"https://openalex.org/C2778538070","wikidata":"https://www.wikidata.org/wiki/Q1436063","display_name":"Autism spectrum disorder","level":3,"score":0.7475763559341431},{"id":"https://openalex.org/C2778186239","wikidata":"https://www.wikidata.org/wiki/Q41571","display_name":"Epilepsy","level":2,"score":0.6258057355880737},{"id":"https://openalex.org/C2778334786","wikidata":"https://www.wikidata.org/wiki/Q1586270","display_name":"Variation (astronomy)","level":2,"score":0.5966615080833435},{"id":"https://openalex.org/C205778803","wikidata":"https://www.wikidata.org/wiki/Q38404","display_name":"Autism","level":2,"score":0.4981956481933594},{"id":"https://openalex.org/C68873052","wikidata":"https://www.wikidata.org/wiki/Q349856","display_name":"Genetic variation","level":3,"score":0.4649542570114136},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.34229278564453125},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.3371206223964691},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.31050366163253784},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.2963477373123169},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.2396748960018158},{"id":"https://openalex.org/C121332964","wikidata":"https://www.wikidata.org/wiki/Q413","display_name":"Physics","level":0,"score":0.10637706518173218},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0827803909778595},{"id":"https://openalex.org/C44870925","wikidata":"https://www.wikidata.org/wiki/Q37547","display_name":"Astrophysics","level":1,"score":0.0}],"mesh":[],"locations_count":2,"locations":[{"id":"pmh:oai:utoronto.scholaris.ca:1807/103126","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/1807/103126","pdf_url":"https://utoronto.scholaris.ca/bitstreams/b7e50417-e597-48f8-bdc2-c65a169004d8/download","source":{"id":"https://openalex.org/S4306400261","display_name":"TSpace (University of Toronto)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I185261750","host_organization_name":"University of Toronto","host_organization_lineage":["https://openalex.org/I185261750"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Thesis"},{"id":"mag:3136691387","doi":null,"is_oa":false,"landing_page_url":"https://tspace.library.utoronto.ca/bitstream/1807/103126/1/Qaiser_Farah_202011_MSc_thesis.pdf","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null}],"best_oa_location":{"id":"pmh:oai:utoronto.scholaris.ca:1807/103126","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/1807/103126","pdf_url":"https://utoronto.scholaris.ca/bitstreams/b7e50417-e597-48f8-bdc2-c65a169004d8/download","source":{"id":"https://openalex.org/S4306400261","display_name":"TSpace (University of Toronto)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I185261750","host_organization_name":"University of Toronto","host_organization_lineage":["https://openalex.org/I185261750"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Thesis"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9537000060081482}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W3136691387.pdf","grobid_xml":"https://content.openalex.org/works/W3136691387.grobid-xml"},"referenced_works_count":140,"referenced_works":["https://openalex.org/W1545240335","https://openalex.org/W1546528060","https://openalex.org/W1650156802","https://openalex.org/W1684892656","https://openalex.org/W1742756123","https://openalex.org/W1749057191","https://openalex.org/W1937686758","https://openalex.org/W1951071248","https://openalex.org/W1962504140","https://openalex.org/W1963736913","https://openalex.org/W1964320147","https://openalex.org/W1964444099","https://openalex.org/W1966166373","https://openalex.org/W1970445122","https://openalex.org/W1970848271","https://openalex.org/W1971321176","https://openalex.org/W1972501089","https://openalex.org/W1974467112","https://openalex.org/W1974848735","https://openalex.org/W1975228824","https://openalex.org/W1976555450","https://openalex.org/W1984068087","https://openalex.org/W1987555879","https://openalex.org/W1991397443","https://openalex.org/W1993671911","https://openalex.org/W1996181407","https://openalex.org/W1997305347","https://openalex.org/W1997714374","https://openalex.org/W1999204296","https://openalex.org/W2002780340","https://openalex.org/W2003063028","https://openalex.org/W2003479128","https://openalex.org/W2007698371","https://openalex.org/W2007792193","https://openalex.org/W2008627757","https://openalex.org/W2012203722","https://openalex.org/W2020331089","https://openalex.org/W2022714591","https://openalex.org/W2022910985","https://openalex.org/W2037606715","https://openalex.org/W2042291251","https://openalex.org/W2043364106","https://openalex.org/W2047838025","https://openalex.org/W2051978340","https://openalex.org/W2053008812","https://openalex.org/W2061706174","https://openalex.org/W2063989452","https://openalex.org/W2071598557","https://openalex.org/W2071724105","https://openalex.org/W2073062083","https://openalex.org/W2075183590","https://openalex.org/W2076446941","https://openalex.org/W2077419526","https://openalex.org/W2084484824","https://openalex.org/W2086740821","https://openalex.org/W2088007420","https://openalex.org/W2098380802","https://openalex.org/W2105316253","https://openalex.org/W2105925371","https://openalex.org/W2108994842","https://openalex.org/W2109637158","https://openalex.org/W2110374888","https://openalex.org/W2113501697","https://openalex.org/W2129516277","https://openalex.org/W2129867386","https://openalex.org/W2131228505","https://openalex.org/W2133978628","https://openalex.org/W2134007691","https://openalex.org/W2134311462","https://openalex.org/W2146867319","https://openalex.org/W2149919973","https://openalex.org/W2153438724","https://openalex.org/W2153773863","https://openalex.org/W2154259233","https://openalex.org/W2159482845","https://openalex.org/W2162735782","https://openalex.org/W2163623694","https://openalex.org/W2166603857","https://openalex.org/W2167684047","https://openalex.org/W2170689018","https://openalex.org/W2176255924","https://openalex.org/W2180140742","https://openalex.org/W2201284016","https://openalex.org/W2222434377","https://openalex.org/W2238708434","https://openalex.org/W2302804942","https://openalex.org/W2383259826","https://openalex.org/W2407310112","https://openalex.org/W2463234104","https://openalex.org/W2466509369","https://openalex.org/W2484001856","https://openalex.org/W2498582720","https://openalex.org/W2512526222","https://openalex.org/W2521723787","https://openalex.org/W2530863869","https://openalex.org/W2560344182","https://openalex.org/W2581649032","https://openalex.org/W2587877487","https://openalex.org/W2591909999","https://openalex.org/W2594644573","https://openalex.org/W2599110791","https://openalex.org/W2600416853","https://openalex.org/W2620322061","https://openalex.org/W2646536716","https://openalex.org/W2734527849","https://openalex.org/W2744887057","https://openalex.org/W2757581422","https://openalex.org/W2758479384","https://openalex.org/W2766489743","https://openalex.org/W2766662494","https://openalex.org/W2767798785","https://openalex.org/W2770465122","https://openalex.org/W2782379361","https://openalex.org/W2782424591","https://openalex.org/W2783266079","https://openalex.org/W2790182135","https://openalex.org/W2800285111","https://openalex.org/W2810952247","https://openalex.org/W2885823448","https://openalex.org/W2888189146","https://openalex.org/W2892078296","https://openalex.org/W2903631495","https://openalex.org/W2914482125","https://openalex.org/W2914608742","https://openalex.org/W2947280478","https://openalex.org/W2949838248","https://openalex.org/W2951924080","https://openalex.org/W2952728907","https://openalex.org/W2952988698","https://openalex.org/W2960399794","https://openalex.org/W2968317618","https://openalex.org/W2974156653","https://openalex.org/W2982458090","https://openalex.org/W2982631241","https://openalex.org/W2983742483","https://openalex.org/W3019597618","https://openalex.org/W3036000905","https://openalex.org/W3044594590","https://openalex.org/W3048479836","https://openalex.org/W3049363993"],"related_works":["https://openalex.org/W4396779534","https://openalex.org/W3199464727","https://openalex.org/W7222440509","https://openalex.org/W2068085597","https://openalex.org/W3025593676","https://openalex.org/W7223004268","https://openalex.org/W4323666789","https://openalex.org/W2946762128","https://openalex.org/W2578997480","https://openalex.org/W2894300431"],"abstract_inverted_index":{"Epilepsy":[0],"and":[1,23,104,144],"autism":[2],"spectrum":[3],"disorder":[4],"(ASD)":[5],"are":[6],"a":[7,28,44,55,78,84],"clinically":[8,62],"heterogeneous":[9],"group":[10],"of":[11,21,38,47,57,80,86,97,115,127,136],"neurological":[12],"disorders.":[13],"Despite":[14],"their":[15],"known":[16],"genetic":[17,49,73,107,142],"basis,":[18],"many":[19],"cases":[20],"epilepsy":[22],"ASD":[24],"remain":[25],"unresolved":[26],"without":[27],"molecular":[29,130],"diagnosis.":[30],"In":[31,54,77],"this":[32],"thesis,":[33],"I":[34,60,91],"describe":[35],"the":[36,87,95,98,116,125,134,141],"use":[37,126],"whole-genome":[39],"sequencing":[40],"(WGS)":[41],"to":[42,111,113,133],"conduct":[43],"genome-wide":[45],"investigation":[46],"rare":[48,64,103],"variation":[50],"in":[51,66,94,140],"two":[52],"cohorts.":[53],"cohort":[56,79],"unexplained":[58],"epilepsies,":[59],"identified":[61],"relevant":[63],"variants":[65,108,139],"9/28":[67],"(32.1%)":[68],"participants,":[69],"for":[70],"whom":[71],"prior":[72],"tests":[74],"were":[75],"inconclusive.":[76],"20":[81],"participants":[82],"with":[83],"duplication":[85],"7q11.23":[88],"region":[89],"(Dup7),":[90],"found":[92],"that":[93,124],"presence":[96],"same":[99],"pathogenic":[100],"Dup7":[101],"variant,":[102],"low":[105],"frequency":[106],"act":[109],"additively":[110],"contribute":[112],"components":[114],"overall":[117],"Dup7-ASD":[118],"phenotype.":[119],"Overall,":[120],"my":[121],"findings":[122],"demonstrate":[123],"WGS":[128],"enables":[129],"diagnosis,":[131],"points":[132],"role":[135],"multiple":[137],"contributing":[138],"background,":[143],"yields":[145],"insights":[146],"into":[147],"epilepsy-ASD":[148],"genetics.":[149]},"counts_by_year":[],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2021-03-29T00:00:00"}
