{"id":"https://openalex.org/W2185813320","doi":null,"title":"ASSESSING THE ASSOCIATION BETWEEN THE INCREASED RESOLUTION OF THE SIGNATURECHIP WG AND THE ABNORMALITY DETECTION RATE","display_name":"ASSESSING THE ASSOCIATION BETWEEN THE INCREASED RESOLUTION OF THE SIGNATURECHIP WG AND THE ABNORMALITY DETECTION RATE","publication_year":2009,"publication_date":"2009-01-01","ids":{"openalex":"https://openalex.org/W2185813320","mag":"2185813320"},"language":"en","primary_location":{"id":"pmh:oai:CiteSeerX.psu:10.1.1.634.5710","doi":null,"is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.634.5710","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"http://www.dissertations.wsu.edu/Thesis/Spring2009/k_leiser_042709.pdf","raw_type":"text"},"volume":null,"type":"article","is_traditional":true,"indexed_in":[],"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/A5023764361","display_name":"Kimberly A. Leiser","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Kimberly A. Leiser","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5023764361"],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.0,"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":false,"primary_topic":{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9696999788284302,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9696999788284302,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.025800000876188278,"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/T10978","display_name":"Prenatal Screening and Diagnostics","score":0.0020000000949949026,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child 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/copy-number-variation","display_name":"copy number variation","score":0.6309999823570251},{"id":"https://openalex.org/keywords/chromosomal-abnormalities","display_name":"chromosomal abnormalities","score":0.6729999780654907},{"id":"https://openalex.org/keywords/genetic-diagnosis","display_name":"genetic diagnosis","score":0.4909999966621399},{"id":"https://openalex.org/keywords/intellectual-disability","display_name":"intellectual disability","score":0.8140000104904175},{"id":"https://openalex.org/keywords/developmental-delay","display_name":"developmental delay","score":0.9100000262260437},{"id":"https://openalex.org/keywords/dysmorphism","display_name":"dysmorphic features","score":0.7950000166893005},{"id":"https://openalex.org/keywords/epilepsy","display_name":"epilepsy","score":0.6489999890327454}],"concepts":[{"id":"https://openalex.org/C50965678","wikidata":"https://www.wikidata.org/wiki/Q2724302","display_name":"Abnormality","level":2,"score":0.945911169052124},{"id":"https://openalex.org/C186836561","wikidata":"https://www.wikidata.org/wiki/Q1931516","display_name":"Microarray","level":4,"score":0.6331863403320312},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4669927656650543},{"id":"https://openalex.org/C8415881","wikidata":"https://www.wikidata.org/wiki/Q6839217","display_name":"Microarray analysis techniques","level":4,"score":0.41691070795059204},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.33259889483451843},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2248295247554779},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.21556773781776428},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.16928070783615112},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.09844207763671875},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.0}],"mesh":[],"locations_count":2,"locations":[{"id":"pmh:oai:CiteSeerX.psu:10.1.1.634.5710","doi":null,"is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.634.5710","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"http://www.dissertations.wsu.edu/Thesis/Spring2009/k_leiser_042709.pdf","raw_type":"text"},{"id":"mag:2185813320","doi":null,"is_oa":false,"landing_page_url":"http://www.dissertations.wsu.edu/Thesis/Spring2009/k_leiser_042709.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":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.8560000061988831,"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":30,"referenced_works":["https://openalex.org/W40736208","https://openalex.org/W1484187172","https://openalex.org/W1578131205","https://openalex.org/W1969211599","https://openalex.org/W1969496555","https://openalex.org/W1973507943","https://openalex.org/W1986668648","https://openalex.org/W1991157854","https://openalex.org/W1994160027","https://openalex.org/W2008340349","https://openalex.org/W2014009217","https://openalex.org/W2031883301","https://openalex.org/W2037213360","https://openalex.org/W2039531029","https://openalex.org/W2054997439","https://openalex.org/W2062625389","https://openalex.org/W2077843410","https://openalex.org/W2084166555","https://openalex.org/W2087484885","https://openalex.org/W2094979812","https://openalex.org/W2096154104","https://openalex.org/W2097310492","https://openalex.org/W2106141196","https://openalex.org/W2110793364","https://openalex.org/W2129637418","https://openalex.org/W2131907932","https://openalex.org/W2137406481","https://openalex.org/W2139150688","https://openalex.org/W2172269228","https://openalex.org/W2287487613"],"related_works":["https://openalex.org/W4237601118","https://openalex.org/W1528915864","https://openalex.org/W2063739474","https://openalex.org/W2167373003","https://openalex.org/W2287487613","https://openalex.org/W7099993954","https://openalex.org/W7098399272","https://openalex.org/W2034745052","https://openalex.org/W1874030631","https://openalex.org/W2071306090"],"abstract_inverted_index":{"By":[0],"Kimberly":[1],"A.":[2],"Leiser,":[3],"MHPA":[4],"Washington":[5],"State":[6],"University":[7],"May":[8],"2009":[9],"Chair:":[10],"Fevzi":[11],"Akinci":[12],"Microarray":[13],"technology":[14],"is":[15,93,108],"quickly":[16],"becoming":[17],"the":[18,47,55,68,97,114,128,132,152,162,166,171,176],"test":[19],"of":[20,26,46,62,70,73,90,127,131,165,194],"choice":[21],"in":[22,99,113,189],"diagnosing":[23],"genetic":[24,63],"disorders":[25],"patients":[27,121,134,179],"with":[28,49,84,110,161,180],"mental":[29],"retardation,":[30],"developmental":[31],"delay,":[32],"dysmorphic":[33],"features,":[34],"and":[35],"seizure":[36],"disorders.":[37],"Signature":[38],"Genomic":[39],"Laboratories":[40],"has":[41,54],"developed":[42],"a":[43,200],"new":[44],"version":[45,164],"microarray":[48],"increased":[50],"resolution.":[51],"The":[52,88],"SignatureChip,":[53],"ability":[56],"to":[57,76,94,105,143,184,199],"detect":[58],"losses":[59],"or":[60,79],"gains":[61],"material":[64],"as":[65,67],"well":[66],"location":[69],"abnormalities,":[71,181],"many":[72],"which":[74],"correspond":[75],"particular":[77],"diseases":[78],"defects":[80],"that":[81],"are":[82],"treatable":[83],"proper":[85],"health":[86],"care.":[87],"purpose":[89],"this":[91],"study":[92],"determine":[95],"if":[96],"increase":[98,112],"resolution,":[100],"from":[101],"SignatureChip":[102,106,139,168],"Version":[103,140],"4.0":[104,141],"WG,":[107],"associated":[109],"an":[111,144,190],"abnormality":[115,146,191],"detection":[116,147,192],"rate.":[117,148],"Two":[118],"hundred":[119],"twelve":[120],"were":[122,182],"tested":[123],"using":[124,138],"both":[125],"versions":[126],"microarray.":[129],"Twentyfour":[130],"212":[133,172],"had":[135,158],"abnormal":[136,186],"results":[137,197],"corresponding":[142],"11.3%":[145],"As":[149],"requested":[150],"by":[151],"patients\u2019":[153],"physicians,":[154],"these":[155],"patient":[156],"samples":[157],"follow-up":[159],"testing":[160],"newer":[163],"microarray,":[167],"WG.":[169],"Of":[170],"patients,":[173],"56,":[174],"including":[175],"original":[177],"24":[178],"found":[183],"have":[185],"results,":[187],"resulting":[188],"rate":[193],"26.4%.":[195],"These":[196],"lead":[198]},"counts_by_year":[],"updated_date":"2026-09-26T08:19:03.415552","created_date":"2016-06-24T00:00:00"}