Karl V Voelkerding

Summary

Affiliation: ARUP Institute for Clinical and Experimental Pathology
Country: USA

Publications

  1. pmc 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 Pathology
    Karl V Voelkerding
    Department of Pathology, University of Utah, Salt Lake City, Utah, USA
    J Mol Diagn 12:539-51. 2010
  2. doi request reprint Next-generation sequencing: from basic research to diagnostics
    Karl V Voelkerding
    ARUP Institute for Experimental and Clinical Pathology, Salt Lake City, Utah 84108, USA
    Clin Chem 55:641-58. 2009
  3. pmc Variant identification in multi-sample pools by illumina genome analyzer sequencing
    Rebecca L Margraf
    ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah, USA
    J Biomol Tech 22:74-84. 2011
  4. pmc Clinical analysis of genome next-generation sequencing data using the Omicia platform
    Emily M Coonrod
    ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA
    Expert Rev Mol Diagn 13:529-40. 2013
  5. ncbi request reprint Extraction and amplification of genomic DNA from human blood on nanoporous aluminum oxide membranes
    Marc G Elgort
    ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT 84108, USA
    Clin Chem 50:1817-9. 2004
  6. pmc Multiplex amplicon genotyping by high-resolution melting
    Michael T Seipp
    ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah 84108, USA
    J Biomol Tech 20:160-4. 2009
  7. pmc High resolution melting applications for clinical laboratory medicine
    Maria Erali
    ARUP Institute for Clinical and Experimental Pathology, University of Utah, Salt Lake City, UT 84108, USA
    Exp Mol Pathol 85:50-8. 2008
  8. ncbi request reprint Quadruplex genotyping of F5, F2, and MTHFR variants in a single closed tube by high-resolution amplicon melting
    Michael 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
  9. ncbi request reprint Unlabeled probes for the detection and typing of herpes simplex virus
    Shale Dames
    ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT 84108, USA
    Clin Chem 53:1847-54. 2007
  10. pmc Characterization of aberrant melting peaks in unlabeled probe assays
    Shale Dames
    ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT 84108, USA
    J Mol Diagn 9:290-6. 2007

Collaborators

Detail Information

Publications27

  1. pmc 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 Pathology
    Karl 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...
  2. doi request reprint Next-generation sequencing: from basic research to diagnostics
    Karl 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)...
  3. pmc Variant identification in multi-sample pools by illumina genome analyzer sequencing
    Rebecca 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...
  4. pmc Clinical analysis of genome next-generation sequencing data using the Omicia platform
    Emily M Coonrod
    ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA
    Expert Rev Mol Diagn 13:529-40. 2013
    ..The software allows clinical scientists to process, analyze, interpret and report on personal genome files...
  5. ncbi request reprint Extraction and amplification of genomic DNA from human blood on nanoporous aluminum oxide membranes
    Marc G Elgort
    ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT 84108, USA
    Clin Chem 50:1817-9. 2004
  6. pmc Multiplex amplicon genotyping by high-resolution melting
    Michael 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...
  7. pmc High resolution melting applications for clinical laboratory medicine
    Maria 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...
  8. ncbi request reprint Quadruplex genotyping of F5, F2, and MTHFR variants in a single closed tube by high-resolution amplicon melting
    Michael 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
    ....
  9. ncbi request reprint Unlabeled probes for the detection and typing of herpes simplex virus
    Shale 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...
  10. pmc Characterization of aberrant melting peaks in unlabeled probe assays
    Shale Dames
    ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT 84108, USA
    J Mol Diagn 9:290-6. 2007
    ....
  11. ncbi request reprint Localization and imaging of nucleic acids on nanoporous aluminum oxide membranes
    Maria Erali
    ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT 84108, USA
    Clin Chem 50:1819-21. 2004
  12. ncbi request reprint Amplicon DNA melting analysis for mutation scanning and genotyping: cross-platform comparison of instruments and dyes
    Mark 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...
  13. ncbi request reprint Increased sensitivity of bacterial detection in cerebrospinal fluid by fluorescent staining on low-fluorescence membrane filters
    Jacob 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...
  14. pmc A single-tube nucleic acid extraction, amplification, and detection method using aluminum oxide
    Shale 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...
  15. ncbi request reprint Evaluation of quantification methods for real-time PCR minor groove binding hybridization probe assays
    Jacob D Durtschi
    ARUP Institute for Clinical and Experimental Pathology, University of Utah, Salt Lake City, UT 84108, USA
    Anal Biochem 361:55-64. 2007
    ....
  16. ncbi request reprint Expanded instrument comparison of amplicon DNA melting analysis for mutation scanning and genotyping
    Mark 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...
  17. pmc Unlabeled oligonucleotides as internal temperature controls for genotyping by amplicon melting
    Michael 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...
  18. pmc Germline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiency
    Karin Chen
    Department of Pediatrics, Division of Allergy, Immunology and Rheumatology, University of Utah, Salt Lake City, UT 84108, USA Electronic address
    Am J Hum Genet 93:812-24. 2013
    ..These findings describe germline mutations in NFKB2 and establish the noncanonical NF-κB signaling pathway as a genetic etiology for this primary immunodeficiency syndrome. ..
  19. doi request reprint Developing genome and exome sequencing for candidate gene identification in inherited disorders: an integrated technical and bioinformatics approach
    Emily M Coonrod
    Research and Development, ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT 84108, USA
    Arch Pathol Lab Med 137:415-33. 2013
    ..Next-generation sequencing has been used for important discoveries in the research setting and is now being implemented into the clinical diagnostic arena...
  20. pmc Comparison of the Illumina Genome Analyzer and Roche 454 GS FLX for resequencing of hypertrophic cardiomyopathy-associated genes
    Shale 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...
  21. doi request reprint 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 mutations
    Annika 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...
  22. doi request reprint A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: A neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload
    Kathryn J Swoboda
    Pediatric Motor Disorders Research Program, Department of Neurology, University of Utah School of Medicine, Salt Lake City, Utah
    Am J Med Genet A 164:17-28. 2014
    ..2013 Wiley Periodicals, Inc. ..
  23. doi request reprint Mycobacterium tuberculosis complex differentiation by genomic deletion patterns with multiplex polymerase chain reaction and melting analysis
    June 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...
  24. pmc Cystic fibrosis testing in a referral laboratory: results and lessons from a six-year period
    Perry G Ridge
    ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA
    J Clin Bioinforma 3:3. 2013
    ..abstract:..
  25. doi request reprint Translating exome sequencing from research to clinical diagnostics
    Emily M Coonrod
    ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT 84108, USA
    Clin Chem Lab Med 50:1161-8. 2012
    ....
  26. pmc Nucleotide extension genotyping by high-resolution melting
    Michael 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...
  27. pmc Multi-sample pooling and illumina genome analyzer sequencing methods to determine gene sequence variation for database development
    Rebecca L Margraf
    ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah 84108, USA
    J Biomol Tech 21:126-40. 2010
    ....