Publications by authors named "Jacob Durtschi"

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Clinical validation of a real-time machine learning-based system for the detection of acute myeloid leukemia by flow cytometry.
Lauren M Zuromski, Jacob Durtschi, Aimal Aziz, Jeffrey Chumley, Mark Dewey

Cytometry B Clin Cytom· September 2025

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The Utah NeoSeq Project: a collaborative multidisciplinary program to facilitate genomic diagnostics in the neonatal intensive care unit.
Sabrina Malone Jenkins, Rachel N Palmquist, Barry Moore, Steven E Boyden, Thomas J Nicholas, Jacob Durtschi

NPJ Genom Med· March 2025

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Generative haplotype prediction outperforms statistical methods for small variant detection in next-generation sequencing data.
Brendan O'Fallon, Ashini Bolia, Jacob Durtschi, Luobin Yang, Eric Fredrickson

Bioinformatics· November 2024

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Morphologic Characteristics and Mutational Analysis of Fumarate Hydratase Deficient Kidney and Smooth Muscle Tumors.
Valarie McMurtry, Jonathan Mahlow, Joshua F Coleman, Georgios Deftereos, Rakhi Jattani, Jacob Durtschi

Am J Clin Pathol· February 2023

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Algorithmic improvements for discovery of germline copy number variants in next-generation sequencing data.
Brendan O'Fallon, Jacob Durtschi, Ana Kellogg, Tracey Lewis, Devin Close

BMC Bioinformatics· July 2022

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CXXC5 variant in an immunodeficient patient with a progressive loss of hematopoietic cells.
Hemant R Joshi, Harry R Hill, Julie Asch, Rebecca L Margraf, Emily Coonrod, Jacob Durtschi

J Allergy Clin Immunol· April 2021

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Genome-Wide Copy Number Variation Detection Using NGS: Data Analysis and Interpretation.
Wei Shen, Philippe Szankasi, Jacob Durtschi, Todd W Kelley, Xinjie Xu

Methods Mol Biol· June 2019

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Novel Mutations Identified With Next-Generation Sequencing Expand the Spectrum of PLP1-Associated Leukodystrophy Clinical Phenotypes.
Rebecca L Margraf, Jacob Durtschi, Bryan Krock, Tara M Newcomb, Joshua L Bonkowsky

Child Neurol Open· July 2018

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Identification of patients with RAG mutations previously diagnosed with common variable immunodeficiency disorders.
David Buchbinder, Rebecca Baker, Yu Nee Lee, Juan Ravell, Yu Zhang, Jacob D Durtschi

J Clin Immunol· February 2015

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Next-generation sequencing of custom amplicons to improve coverage of HaloPlex multigene panels.
Emily M Coonrod, Jacob D Durtschi, Chad VanSant Webb, Karl V Voelkerding, Attila Kumánovics

Biotechniques· October 2014

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A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data.
Hao Hu, Jared C Roach, Hilary Coon, Stephen L Guthery, Karl V Voelkerding, Jacob D Durtschi

Nat Biotechnol· July 2014

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VarBin, a novel method for classifying true and false positive variants in NGS data.
Jacob Durtschi, Rebecca L Margraf, Emily M Coonrod, Kalyan C Mallempati, Karl V Voelkerding

BMC Bioinformatics· May 2014

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Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families.
Marc V Singleton, Stephen L Guthery, Karl V Voelkerding, Karin Chen, Brett Kennedy, Jacob Durtschi

Am J Hum Genet· April 2014

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A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload.
Kathryn J Swoboda, Rebecca L Margraf, John C Carey, Holly Zhou, Tara M Newcomb, Jacob Durtschi

Am J Med Genet A· January 2014

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Germline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiency.
Karin Chen, Emily M Coonrod, Attila Kumánovics, Zechariah F Franks, Jacob D Durtschi

Am J Hum Genet· November 2013

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Developing genome and exome sequencing for candidate gene identification in inherited disorders: an integrated technical and bioinformatics approach.
Emily M Coonrod, Jacob D Durtschi, Rebecca L Margraf, Karl V Voelkerding

Arch Pathol Lab Med· March 2013

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TACI mutation p.Lys154Ter identified in Good Syndrome.
Rebecca L Margraf, Emily M Coonrod, Jacob D Durtschi, Nancy H Augustine, Karl V Voelkerding

Clin Immunol· January 2013

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A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspective.
Whitney L Wooderchak-Donahue, Brendan O'Fallon, Larissa V Furtado, Jacob D Durtschi, Parker Plant

BMC Med Genomics· November 2012

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Mycobacterium chelonae-abscessus complex associated with sinopulmonary disease, Northeastern USA.
Keith E Simmon, Barbara A Brown-Elliott, Perry G Ridge, Jacob D Durtschi, Linda Bridge Mann

Emerg Infect Dis· September 2011

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Variant identification in multi-sample pools by illumina genome analyzer sequencing.
Rebecca L Margraf, Jacob D Durtschi, Shale Dames, David C Pattison, Jack E Stephens

J Biomol Tech· July 2011

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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, Shale Dames, Jacob D Durtschi

J Mol Diagn· September 2010

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Multi-sample pooling and illumina genome analyzer sequencing methods to determine gene sequence variation for database development.
Rebecca L Margraf, Jacob D Durtschi, Shale Dames, David C Pattison, Jack E Stephens

J Biomol Tech· September 2010

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Comparison of the Illumina Genome Analyzer and Roche 454 GS FLX for resequencing of hypertrophic cardiomyopathy-associated genes.
Shale Dames, Jacob Durtschi, Katherine Geiersbach, Jack Stephens, Karl V Voelkerding

J Biomol Tech· July 2010

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Multiplex amplicon genotyping by high-resolution melting.
Michael T Seipp, Jacob D Durtschi, Karl V Voelkerding, Carl T Wittwer

J Biomol Tech· July 2009

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Next-generation sequencing: from basic research to diagnostics.
Karl V Voelkerding, Shale A Dames, Jacob D Durtschi

Clin Chem· April 2009

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