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dc.contributor.authorKothiyal, Prachi
dc.contributor.authorCox, Stephanie
dc.contributor.authorEbert, Jonathan
dc.contributor.authorHusami, Ammar
dc.contributor.authorKenna, Margaret Alene
dc.contributor.authorGreinwald, John H.
dc.contributor.authorAronow, Bruce J.
dc.contributor.authorRehm, Heidi L.
dc.date.accessioned2011-03-19T20:46:41Z
dc.date.issued2010
dc.identifier.citationKothiyal, Prachi, Stephanie Cox, Jonathan Ebert, Ammar Husami, Margaret A. Kenna, John H. Greinwald, Bruce J. Aronow, and Heidi L. Rehm. 2010. High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays. BMC Biotechnology 10: 10.en_US
dc.identifier.issn1472-6750en_US
dc.identifier.urihttp://nrs.harvard.edu/urn-3:HUL.InstRepos:4745742
dc.description.abstractBackground: Despite current knowledge of mutations in 45 genes that can cause nonsyndromic sensorineural hearing loss (SNHL), no unified clinical test has been developed that can comprehensively detect mutations in multiple genes. We therefore designed Affymetrix resequencing microarrays capable of resequencing 13 genes mutated in SNHL (GJB2, GJB6, CDH23, KCNE1, KCNQ1, MYO7A, OTOF, PDS, MYO6, SLC26A5, TMIE, TMPRSS3, USH1C). We present results from hearing loss arrays developed in two different research facilities and highlight some of the approaches we adopted to enhance the applicability of resequencing arrays in a clinical setting. Results: We leveraged sequence and intensity pattern features responsible for diminished coverage and accuracy and developed a novel algorithm, sPROFILER, which resolved >80% of no-calls from GSEQ and allowed 99.6% (range: 99.2-99.8%) of sequence to be called, while maintaining overall accuracy at >99.8% based upon dideoxy sequencing comparison. Conclusions: Together, these findings provide insight into critical issues for disease-centered resequencing protocols suitable for clinical application and support the use of array-based resequencing technology as a valuable molecular diagnostic tool for pediatric SNHL and other genetic diseases with substantial genetic heterogeneity.en_US
dc.language.isoen_USen_US
dc.publisherBioMed Centralen_US
dc.relation.isversionofdoi://10.1186/1472-6750-10-10en_US
dc.relation.hasversionhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC2841091/pdf/en_US
dash.licenseLAA
dc.titleHigh-Throughput Detection of Mutations Responsible for Childhood Hearing Loss Using Resequencing Microarraysen_US
dc.typeJournal Articleen_US
dc.description.versionVersion of Recorden_US
dc.relation.journalBMC Biotechnologyen_US
dash.depositing.authorKenna, Margaret Alene
dc.date.available2011-03-19T20:46:41Z
dash.affiliation.otherHMS^Otology and Laryngologyen_US
dash.affiliation.otherHMS^Pathologyen_US
dc.identifier.doi10.1186/1472-6750-10-10*
dash.contributor.affiliatedKenna, Margaret
dash.contributor.affiliatedRehm, Heidi


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