Research Topics
| Karl V VoelkerdingSummaryAffiliation: ARUP Institute for Clinical and Experimental Pathology Country: USA Publications
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Detail Information
Publications
Next generation sequencing for clinical diagnostics-principles and application to targeted resequencing for hypertrophic cardiomyopathy: a paper from the 2009 William Beaumont Hospital Symposium on Molecular PathologyKarl V Voelkerding
Department of Pathology, University of Utah, Salt Lake City, Utah, USA
J Mol Diagn 12:539-51. 2010..These concepts are subsequently further illustrated by showing representative results from a case study using NGS for targeted resequencing of genes implicated in hypertrophic cardiomyopathy...
Next-generation sequencing: from basic research to diagnosticsKarl V Voelkerding
ARUP Institute for Experimental and Clinical Pathology, Salt Lake City, Utah 84108, USA
Clin Chem 55:641-58. 2009..The commercial launch of the first massively parallel pyrosequencing platform in 2005 ushered in the new era of high-throughput genomic analysis now referred to as next-generation sequencing (NGS)...- Variant identification in multi-sample pools by illumina genome analyzer sequencingRebecca L Margraf
ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah, USA
J Biomol Tech 22:74-84. 2011..The presented pooling protocols and analysis methods can be used for variant discovery in other genes, facilitating molecular diagnostic test design and interpretation... 
Extraction and amplification of genomic DNA from human blood on nanoporous aluminum oxide membranesMarc G Elgort
ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT 84108, USA
Clin Chem 50:1817-9. 2004- Multiplex amplicon genotyping by high-resolution meltingMichael T Seipp
ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah 84108, USA
J Biomol Tech 20:160-4. 2009..The LS-32 simplifies more complex high-resolution melting assays by reducing hands-on manipulation, total time of analysis, and reagent cost while maintaining the resolution necessary for multiplex amplicon genotyping... - High resolution melting applications for clinical laboratory medicineMaria Erali
ARUP Institute for Clinical and Experimental Pathology, University of Utah, Salt Lake City, UT 84108, USA
Exp Mol Pathol 85:50-8. 2008..In the clinical laboratory, it is an ideal format for in-house testing, with minimal cost and time requirements for new assay development... - Quadruplex genotyping of F5, F2, and MTHFR variants in a single closed tube by high-resolution amplicon meltingMichael T Seipp
ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories, 500 Chipeta Way, Salt Lake City, UT 84108, USA
Clin Chem 54:108-15. 2008.... - Unlabeled probes for the detection and typing of herpes simplex virusShale Dames
ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT 84108, USA
Clin Chem 53:1847-54. 2007..Unlabeled probes and amplicon melting have been used to detect small deletions and single-nucleotide polymorphisms in assays where template is in abundance. Unlabeled probes have not been applied to low-level target detection, however... - Characterization of aberrant melting peaks in unlabeled probe assaysShale Dames
ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT 84108, USA
J Mol Diagn 9:290-6. 2007.... - Unlabeled oligonucleotides as internal temperature controls for genotyping by amplicon meltingMichael T Seipp
ARUP Institute for Clinical and Experimental, Pathology, Salt Lake City, UT 84108, USA
J Mol Diagn 9:284-9. 2007..In conclusion, internal temperature controls increase the accuracy of genotyping by high-resolution amplicon melting and should also improve results on lower resolution instruments... - Expanded instrument comparison of amplicon DNA melting analysis for mutation scanning and genotypingMark G Herrmann
Institute for Clinical and Experimental Pathology, ARUP, Salt Lake City, UT 84108, USA
Clin Chem 53:1544-8. 2007..We assessed the performance of these new instruments for genotyping and scanning for mutations... - Evaluation of quantification methods for real-time PCR minor groove binding hybridization probe assaysJacob D Durtschi
ARUP Institute for Clinical and Experimental Pathology, University of Utah, Salt Lake City, UT 84108, USA
Anal Biochem 361:55-64. 2007.... - A single-tube nucleic acid extraction, amplification, and detection method using aluminum oxideShale Dames
ARUP Institute for Clinical and Experimental Pathology, 500 Chipeta Way, Salt Lake City, UT 84108, USA
J Mol Diagn 8:16-21. 2006..The AOM single tube method is a fast, reliable, and reproducible technique for the extraction, amplification, and detection of HSV in CSF... - Amplicon DNA melting analysis for mutation scanning and genotyping: cross-platform comparison of instruments and dyesMark G Herrmann
Institute for Clinical and Experimental Pathology, ARUP, Salt Lake City, UT, USA
Clin Chem 52:494-503. 2006..The comparative performance of other instruments and dyes has not been evaluated... - Localization and imaging of nucleic acids on nanoporous aluminum oxide membranesMaria Erali
ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT 84108, USA
Clin Chem 50:1819-21. 2004 - Increased sensitivity of bacterial detection in cerebrospinal fluid by fluorescent staining on low-fluorescence membrane filtersJacob D Durtschi
ARUP Institute for Clinical and Experimental Pathology and Department of Pathology, University of Utah, Salt Lake City, UT 84108, USA
J Med Microbiol 54:843-50. 2005..5 order of magnitude increase in the bacterial concentration limit of detection... - Comparison of the Illumina Genome Analyzer and Roche 454 GS FLX for resequencing of hypertrophic cardiomyopathy-associated genesShale Dames
ARUP Laboratories for Clinical and Experimental Pathology, Salt Lake City, Utah 84108, USA
J Biomol Tech 21:73-80. 2010..The results of the current study demonstrate the feasibility of combining LR-PCR with the Genome Analyzer or GS FLX for targeted resequencing of HCM-associated genes... - Detection of large rearrangements in the cystic fibrosis transmembrane conductance regulator gene by multiplex ligation-dependent probe amplification assay when sequencing fails to detect two disease-causing mutationsAnnika M Svensson
Department of Pathology, University of Utah, Salt Lake City, Utah, USA
Genet Test Mol Biomarkers 14:171-4. 2010..This study was undertaken to determine whether testing for large gene rearrangements could improve the mutation detection rate... - Mycobacterium tuberculosis complex differentiation by genomic deletion patterns with multiplex polymerase chain reaction and melting analysisJune I Pounder
Institute for Clinical and Experimental Pathology, Associated Regional and University Pathologists, Inc, Salt Lake City, UT 84108, USA
Diagn Microbiol Infect Dis 67:101-5. 2010..This assay is a fast single-tube method to differentiate members of MTC... - Translating exome sequencing from research to clinical diagnosticsEmily M Coonrod
ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT 84108, USA
Clin Chem Lab Med 50:1161-8. 2012.... - Multi-sample pooling and illumina genome analyzer sequencing methods to determine gene sequence variation for database developmentRebecca L Margraf
ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah 84108, USA
J Biomol Tech 21:126-40. 2010.... - Nucleotide extension genotyping by high-resolution meltingMichael Liew
Associated Regional and University Pathologists ARUP Institute for Clinical and Experimental Pathology, 500 Chipeta Way, Salt Lake City, UT 84108 1221, USA
J Mol Diagn 12:731-8. 2010..F5 discordants were genotyped correctly by redesigning the assay. Our results demonstrate that although single nucleotide polymorphisms can be successfully differentiated using this methodology, the method requires careful optimization...