{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T21:24:35Z","timestamp":1791494675198,"version":"4.3.4"},"reference-count":41,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2015,2,17]],"date-time":"2015-02-17T00:00:00Z","timestamp":1424131200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001794","name":"University of Queensland","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001794","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2015,12]]},"abstract":"Short\u2010rib thoracic dystrophies (SRTDs<\/jats:styled-content>) are congenital disorders due to defects in primary cilium function. SRTDs<\/jats:styled-content> are recessively inherited with mutations identified in 14 genes to date (comprising 398 exons). Conventional mutation detection (usually by iterative Sanger sequencing) is inefficient and expensive, and often not undertaken. Whole exome massive parallel sequencing has been used to identify new genes for SRTD<\/jats:styled-content> (WDR34<\/jats:styled-content><\/jats:italic>, WDR60<\/jats:styled-content><\/jats:italic> and IFT172<\/jats:styled-content><\/jats:italic>); however, the clinical utility of whole exome sequencing (WES<\/jats:styled-content>) has not been established. WES<\/jats:styled-content> was performed in 11 individuals with SRTDs<\/jats:styled-content>. Compound heterozygous or homozygous mutations were identified in six confirmed SRTD<\/jats:styled-content> genes in 10 individuals (IFT172<\/jats:styled-content>, DYNC2H1<\/jats:styled-content>, TTC21B<\/jats:styled-content>, WDR60<\/jats:styled-content><\/jats:italic>, WDR34<\/jats:styled-content><\/jats:italic> and NEK1<\/jats:styled-content><\/jats:italic>), giving overall sensitivity of 90.9%. WES<\/jats:styled-content> data from 993 unaffected individuals sequenced using similar technology showed two individuals with rare (minor allele frequency <0.005) compound heterozygous variants of unknown significance in SRTD<\/jats:styled-content> genes (specificity >99%). Costs for consumables, laboratory processing and bioinformatic analysis were <AU<\/jats:styled-content>$850 per sample. WES<\/jats:styled-content> is sensitive, specific, efficient and cost\u2010effective for mutation screening as well as gene discovery in SRTDs<\/jats:styled-content> and can be considered a first\u2010line methodology for mutation identification in affected individuals.<\/jats:p>","DOI":"10.1111\/cge.12550","type":"journal-article","created":{"date-parts":[[2014,12,10]],"date-time":"2014-12-10T07:57:11Z","timestamp":1418198231000},"page":"550-557","source":"Crossref","is-referenced-by-count":51,"title":["Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short\u2010rib thoracic dystrophies"],"prefix":"10.1111","volume":"88","author":[{"given":"A.M.","family":"McInerney\u2010Leo","sequence":"first","affiliation":[{"name":"The University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital Woolloongabba QLD 4102 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