{"id":"https://openalex.org/W2404919086","doi":null,"title":"Exome sequencing and human disease : the molecular characterisation of genetic disorders","display_name":"Exome sequencing and human disease : the molecular characterisation of genetic disorders","publication_year":2016,"publication_date":"2016-07-01","ids":{"openalex":"https://openalex.org/W2404919086","mag":"2404919086"},"language":"en","primary_location":{"id":"pmh:oai:etheses.bham.ac.uk:6664","doi":null,"is_oa":true,"landing_page_url":"http://etheses.bham.ac.uk/6664/1/Walsh16PhD.pdf","pdf_url":"http://etheses.bham.ac.uk/6664/1/Walsh16PhD.pdf","source":{"id":"https://openalex.org/S4306402357","display_name":"University of Birmingham Institutional Research Archive (University of Birmingham)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I79619799","host_organization_name":"University of Birmingham","host_organization_lineage":["https://openalex.org/I79619799"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Thesis"},"volume":null,"type":"dissertation","is_traditional":true,"indexed_in":[],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"http://etheses.bham.ac.uk/6664/1/Walsh16PhD.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5083127488","display_name":"Diana M. Walsh","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Diana Walsh","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5083127488"],"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/T11642","display_name":"Genomics and Rare Diseases","score":1.0,"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":1.0,"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/T10015","display_name":"Genomics and Phylogenetic Studies","score":0.0,"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/T11027","display_name":"Metabolism and Genetic Disorders","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"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/whole-exome-sequencing","display_name":"exome sequencing","score":0.996999979019165},{"id":"https://openalex.org/keywords/genetic-disorders","display_name":"genetic disorders","score":0.7429999709129333},{"id":"https://openalex.org/keywords/acrocallosal-syndrome","display_name":"acrocallosal syndrome","score":0.8410000205039978},{"id":"https://openalex.org/keywords/autosomal-recessive-disorder","display_name":"autosomal recessive disorder","score":0.8709999918937683},{"id":"https://openalex.org/keywords/pheochromocytoma","display_name":"pheochromocytoma","score":0.9800000190734863},{"id":"https://openalex.org/keywords/paraganglioma","display_name":"paraganglioma","score":0.9990000128746033},{"id":"https://openalex.org/keywords/neuroendocrine-tumors","display_name":"neuroendocrine tumors","score":0.9710000157356262},{"id":"https://openalex.org/keywords/hereditary-cancer-syndromes","display_name":"hereditary cancer","score":0.6230000257492065},{"id":"https://openalex.org/keywords/sporadic-cancer","display_name":"sporadic cancer","score":0.8700000047683716},{"id":"https://openalex.org/keywords/genetic-etiology","display_name":"genetic etiology","score":0.7599999904632568},{"id":"https://openalex.org/keywords/pathogenesis","display_name":"pathogenesis","score":0.7639999985694885},{"id":"https://openalex.org/keywords/treatment-strategy","display_name":"treatment options","score":0.3959999978542328}],"concepts":[{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.8721151351928711},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.6821696162223816},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.6818932890892029},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.6080296039581299},{"id":"https://openalex.org/C189206191","wikidata":"https://www.wikidata.org/wiki/Q222046","display_name":"Genomics","level":4,"score":0.5343175530433655},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5231060981750488},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5002191066741943},{"id":"https://openalex.org/C197077220","wikidata":"https://www.wikidata.org/wiki/Q720988","display_name":"Human genome","level":4,"score":0.4855668246746063},{"id":"https://openalex.org/C47042493","wikidata":"https://www.wikidata.org/wiki/Q265799","display_name":"Human genetics","level":3,"score":0.4562869668006897},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4440745413303375},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.40266919136047363},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.40015268325805664},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.2885955572128296},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.24373400211334229},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.21536529064178467},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.10253199934959412}],"mesh":[],"locations_count":2,"locations":[{"id":"pmh:oai:etheses.bham.ac.uk:6664","doi":null,"is_oa":true,"landing_page_url":"http://etheses.bham.ac.uk/6664/1/Walsh16PhD.pdf","pdf_url":"http://etheses.bham.ac.uk/6664/1/Walsh16PhD.pdf","source":{"id":"https://openalex.org/S4306402357","display_name":"University of Birmingham Institutional Research Archive (University of Birmingham)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I79619799","host_organization_name":"University of Birmingham","host_organization_lineage":["https://openalex.org/I79619799"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Thesis"},{"id":"mag:2404919086","doi":null,"is_oa":false,"landing_page_url":"http://etheses.bham.ac.uk/6664/","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:etheses.bham.ac.uk:6664","doi":null,"is_oa":true,"landing_page_url":"http://etheses.bham.ac.uk/6664/1/Walsh16PhD.pdf","pdf_url":"http://etheses.bham.ac.uk/6664/1/Walsh16PhD.pdf","source":{"id":"https://openalex.org/S4306402357","display_name":"University of Birmingham Institutional Research Archive (University of Birmingham)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I79619799","host_organization_name":"University of Birmingham","host_organization_lineage":["https://openalex.org/I79619799"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Thesis"},"sustainable_development_goals":[{"score":0.9391000270843506,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2404919086.pdf","grobid_xml":"https://content.openalex.org/works/W2404919086.grobid-xml"},"referenced_works_count":98,"referenced_works":["https://openalex.org/W17667543","https://openalex.org/W1544328481","https://openalex.org/W1544864002","https://openalex.org/W1581959637","https://openalex.org/W1594231639","https://openalex.org/W1602845909","https://openalex.org/W1749022239","https://openalex.org/W1752590762","https://openalex.org/W1966955143","https://openalex.org/W1970540546","https://openalex.org/W1972049563","https://openalex.org/W1973055292","https://openalex.org/W1978876698","https://openalex.org/W1986275323","https://openalex.org/W1987913532","https://openalex.org/W1988377666","https://openalex.org/W1988497076","https://openalex.org/W1992804184","https://openalex.org/W1992864103","https://openalex.org/W1993753981","https://openalex.org/W1995223671","https://openalex.org/W2002015567","https://openalex.org/W2007988561","https://openalex.org/W2009697944","https://openalex.org/W2012016911","https://openalex.org/W2013636254","https://openalex.org/W2013938815","https://openalex.org/W2016831278","https://openalex.org/W2017444651","https://openalex.org/W2019339771","https://openalex.org/W2023291869","https://openalex.org/W2025719835","https://openalex.org/W2030749349","https://openalex.org/W2032428330","https://openalex.org/W2033990985","https://openalex.org/W2038147049","https://openalex.org/W2039783092","https://openalex.org/W2039819049","https://openalex.org/W2040037093","https://openalex.org/W2041993682","https://openalex.org/W2042624112","https://openalex.org/W2044189739","https://openalex.org/W2054185647","https://openalex.org/W2056534115","https://openalex.org/W2057199368","https://openalex.org/W2057492396","https://openalex.org/W2059300459","https://openalex.org/W2062805420","https://openalex.org/W2063348376","https://openalex.org/W2063919863","https://openalex.org/W2064509542","https://openalex.org/W2064966510","https://openalex.org/W2068555261","https://openalex.org/W2071893342","https://openalex.org/W2075878636","https://openalex.org/W2077858999","https://openalex.org/W2079435339","https://openalex.org/W2081460564","https://openalex.org/W2082214219","https://openalex.org/W2082447166","https://openalex.org/W2085609942","https://openalex.org/W2085780200","https://openalex.org/W2086293424","https://openalex.org/W2094006054","https://openalex.org/W2095920230","https://openalex.org/W2096462919","https://openalex.org/W2098207011","https://openalex.org/W2102287393","https://openalex.org/W2113764519","https://openalex.org/W2113821617","https://openalex.org/W2115494288","https://openalex.org/W2117692326","https://openalex.org/W2124821411","https://openalex.org/W2126511952","https://openalex.org/W2131397321","https://openalex.org/W2131999768","https://openalex.org/W2132731072","https://openalex.org/W2133933613","https://openalex.org/W2135433369","https://openalex.org/W2136749294","https://openalex.org/W2138170649","https://openalex.org/W2139228552","https://openalex.org/W2139903328","https://openalex.org/W2141637710","https://openalex.org/W2160615487","https://openalex.org/W2160863198","https://openalex.org/W2164442171","https://openalex.org/W2164978844","https://openalex.org/W2165326148","https://openalex.org/W2166987747","https://openalex.org/W2169516568","https://openalex.org/W2170005108","https://openalex.org/W2170034664","https://openalex.org/W2170460043","https://openalex.org/W2171502387","https://openalex.org/W2402751151","https://openalex.org/W2517615555","https://openalex.org/W3151229532"],"related_works":["https://openalex.org/W4387410740","https://openalex.org/W2754616012","https://openalex.org/W7097873666","https://openalex.org/W1969198234","https://openalex.org/W2138170649","https://openalex.org/W1951961017","https://openalex.org/W2014000753","https://openalex.org/W7135674107","https://openalex.org/W130237814","https://openalex.org/W2971779048"],"abstract_inverted_index":{"Since":[0],"the":[1,4,10,22,34,44,56,69,89,96,121,140,156,236],"completion":[2],"of":[3,12,24,47,62,75,95,105,124,209,239],"human":[5,201],"genome":[6],"project":[7],"in":[8,19,36,50,65,79,180,203],"2001,":[9],"field":[11],"genomics":[13],"has":[14,32,114],"advanced":[15],"exponentially,":[16],"largely":[17],"due":[18],"part":[20],"to":[21,58,67,85,103,117,138,174,182,194,199,205,224,226,229],"introduction":[23],"next":[25],"generation":[26,112],"sequencing":[27,46,78,113,133,170],"(NGS);":[28],"a":[29,172],"technique":[30],"that":[31,163,219],"revolutionised":[33],"ways":[35],"which":[37,52],"genetic":[38,70,122,141],"disease":[39,210],"is":[40,217],"investigated.":[41],"NGS":[42],"enables":[43],"simultaneous":[45],"multiple":[48],"reads":[49],"parallel,":[51],"provides":[53],"researchers":[54],"with":[55,143],"opportunity":[57],"interrogate":[59],"vast":[60],"numbers":[61],"candidate":[63],"genes":[64],"order":[66,204],"establish":[68],"eitiology":[71],"and":[72,119,146,149,160,188,212,234],"key":[73],"components":[74],"disease.":[76,110],"Exome":[77,132],"particular":[80],"offers":[81],"an":[82],"efficient":[83],"method":[84],"investigate":[86,118,139,175,200],"disease,":[87,202],"as":[88,171],"exomic":[90],"regions":[91],"make":[92],"up":[93,102],"1%":[94],"whole":[97],"genome,":[98],"but":[99],"can":[100,164],"contain":[101],"85%":[104],"functional":[106],"variants":[107],"responsible":[108],"for":[109],"Next":[111],"been":[115],"employed":[116],"identify":[120],"cause":[123],"Acrocallosal":[125],"syndrome":[126],"(a":[127],"rare":[128,176],"autosomal":[129,177],"recessive":[130,178],"disorder).":[131],"was":[134],"then":[135],"also":[136],"applied":[137],"associations":[142],"both":[144],"familial":[145,187],"sporadic":[147,189],"pheochromocytomas":[148],"paragangliomas":[150],"(neuroendocrine":[151],"tumours).":[152],"This":[153,191],"study":[154,192],"describes":[155],"various":[157],"applications,":[158],"challenges":[159],"potential":[161],"benefits":[162],"be":[165],"achieved":[166],"by":[167],"using":[168],"exome":[169],"tool":[173],"disorders":[179,185],"addition":[181],"more":[183],"complex":[184],"including":[186],"cancer.":[190],"aims":[193],"employ":[195],"cutting":[196],"edge":[197],"technology":[198],"enhance":[206],"current":[207],"understandings":[208],"biology":[211],"pathogenesis.":[213],"Through":[214],"this,":[215],"it":[216],"hoped":[218],"these":[220,240],"findings":[221],"may":[222],"help":[223],"contribute":[225],"on-going":[227],"efforts":[228],"develop":[230],"novel":[231],"therapeutic":[232],"strategies":[233],"improve":[235],"clinical":[237],"management":[238],"disorders.":[241]},"counts_by_year":[],"updated_date":"2026-09-22T06:50:58.402377","created_date":"2016-06-24T00:00:00"}