K
Karl V. Voelkerding
Researcher at University of Utah
Publications - 109
Citations - 24407
Karl V. Voelkerding is an academic researcher from University of Utah. The author has contributed to research in topics: Exome sequencing & DNA sequencing. The author has an hindex of 40, co-authored 108 publications receiving 17307 citations. Previous affiliations of Karl V. Voelkerding include University of Wisconsin-Madison & University of Wisconsin Hospital and Clinics.
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Journal ArticleDOI
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Sue Richards,Nazneen Aziz,Nazneen Aziz,Sherri J. Bale,David P. Bick,Soma Das,Julie M. Gastier-Foster,Wayne W. Grody,Madhuri Hegde,Elaine Lyon,Elaine B. Spector,Karl V. Voelkerding,Heidi L. Rehm +12 more
TL;DR: Because of the increased complexity of analysis and interpretation of clinical genetic testing described in this report, the ACMG strongly recommends thatclinical molecular genetic testing should be performed in a Clinical Laboratory Improvement Amendments–approved laboratory, with results interpreted by a board-certified clinical molecular geneticist or molecular genetic pathologist or the equivalent.
Journal ArticleDOI
Next-Generation Sequencing: From Basic Research to Diagnostics
TL;DR: In the relatively short time frame since 2005, NGS has fundamentally altered genomics research and allowed investigators to conduct experiments that were previously not technically feasible or affordable, and further improvements in technology robustness and process streamlining will pave the path for translation into clinical diagnostics.
Journal ArticleDOI
Guidelines for Validation of Next-Generation Sequencing-Based Oncology Panels: A Joint Consensus Recommendation of the Association for Molecular Pathology and College of American Pathologists.
Lawrence J. Jennings,Maria E. Arcila,Christopher L. Corless,Suzanne Kamel-Reid,Suzanne Kamel-Reid,Ira M. Lubin,John D. Pfeifer,Robyn L. Temple-Smolkin,Karl V. Voelkerding,Karl V. Voelkerding,Marina N. Nikiforova +10 more
TL;DR: The recommendations contained herein are intended to assist clinical laboratories with the validation and ongoing monitoring of NGS testing for detection of somatic variants and to ensure high quality of sequencing results.
Journal ArticleDOI
Assuring the quality of next-generation sequencing in clinical laboratory practice
Amy S. Gargis,Lisa V. Kalman,Meredith W Berry,David P. Bick,David Dimmock,Tina Hambuch,Fei Lu,Elaine Lyon,Karl V. Voelkerding,Barbara A. Zehnbauer,Richa Agarwala,Sarah F. Bennett,Bin Chen,Ephrem L H Chin,John G. Compton,Soma Das,Daniel H. Farkas,Matthew J. Ferber,Birgit Funke,Manohar R. Furtado,Lilia Ganova-Raeva,Ute Geigenmüller,Sandra J Gunselman,Madhuri Hegde,Philip L. F. Johnson,Andrew Kasarskis,Shashikant Kulkarni,Thomas Lenk,CS Jonathan Liu,Megan Manion,Teri A. Manolio,Elaine R. Mardis,Jason D. Merker,Mangalathu S. Rajeevan,Martin G. Reese,Heidi L. Rehm,Birgitte B. Simen,Joanne M. Yeakley,Justin M. Zook,Ira M. Lubin +39 more
TL;DR: This research highlights the need to understand more fully the role of Epstein-Barr virus in infectious disease and its role in Hunter-LaSalle syndrome.
Journal ArticleDOI
Amplicon DNA Melting Analysis for Mutation Scanning and Genotyping: Cross-Platform Comparison of Instruments and Dyes
Mark G. Herrmann,Jacob D. Durtschi,L. Kathryn Bromley,Carl T. Wittwer,Carl T. Wittwer,Karl V. Voelkerding,Karl V. Voelkerding +6 more
TL;DR: Different instruments and dyes vary widely in their ability to genotype homozygous variants and scan for heterozygotes by whole-amplicon melting analysis, and instruments specifically designed for high-resolution melting displayed the least variation, suggesting better scanning sensitivity and specificity.