U.S. flag

An official website of the United States government

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Health

Clinical diagnostics

Search Publications

Search Title, Abstract, Conference, Citation, Keyword or Author
Published Date
Displaying 126 - 150 of 172

Development and Characterization of Reference Materials for Genetic Testing

November 1, 2016
Author(s)
Justin M. Zook, Marc L. Salit, Lisa V. Kalman, Mickey Williams, Vivekananda Datta, Jin-Yeong Han
Characterized reference materials (RM) are needed for test development and validation, quality control procedures and proficiency testing to assure the quality of clinical laboratory tests. In this article, we review the development and characterization of

Certified DNA Reference Materials to Compare HER2 Gene Amplification Measurements Using Next- Generation Sequencing Methods

September 1, 2016
Author(s)
Chih-Jian Lih, Robin D. Harrington, Kneshay Harper, David J. Sims, Paul McGregor, Corinne Camalier, Han Si, Biswajit Das, P. M. Williams, Hua-Jun He, Jamie L. Almeida, Steven Lund, Steven J. Choquette, Kenneth D. Cole
The National Institute of Standards and Technology (NIST) Standard Reference Materials 2373 is a set of genomic DNA samples prepared from five breast cancer cell lines with certified values for the ratio of the HER2 gene copy number to the copy numbers of

Standards for cell line authentication and beyond

June 14, 2016
Author(s)
Jamie L. Almeida, Kenneth D. Cole, Anne L. Plant
Different genomic technologies have been applied to cell line authentication, but only one method (short tandem repeat profiling) has been the subject of a comprehensive standard (ASN-0002). Here we discuss the power of this document, and why standards

Wide-field quantitative imaging of tissue microstructure using high-frequency structured light

June 9, 2016
Author(s)
David McClatchy III, Elizabeth Rizzo, wendy wells, Jeeseong C. Hwang, keith paulson, Brian Pogue, Stephen Kanick
Sub-diffusive structured light imaging has been shown to accurately and quantitatively map the reduced scattering coefficient and the phase function backscatter parameter in a wide-field geometry. This study shows the first the experimental imaging of

Extensive sequencing of seven human genomes to characterize benchmark reference materials

June 7, 2016
Author(s)
Justin M. Zook, Jennifer H. McDaniel, David N. Catoe, Lindsay Harris, Marc L. Salit
The Genome in a Bottle Consortium hosted by the National Institute of Standards and Technology, (NIST), is creating reference materials and data for human genome sequencing, as well as methods for genome comparison and benchmarking. Here, we describe a

High Levels of Gadolinium Deposition in the Skin of a Patient with Normal Renal Function

May 2, 2016
Author(s)
William C. Davis, Donna R. Roberts, Scott M. Lindhorst, Cynthia T. Welsh, Mary N. Herring, Adam Braun, Bruce H. Thiers
Objective: The aim of this study was to assess gadolinium deposition in the skin of a patient with normal renal function, based on estimated glomerular filtration rate (eGFR) values greater than 59 ml/min/1.73 m2, following exposure to large cumulative

Clinical Implications of Technical Performance in Medical Genome Sequencing

March 2, 2016
Author(s)
Justin M. Zook, James Priest, Rachel Goldfeder, Megan Grove, Daryl Waggott, Matthew Wheeler, Euan Ashley, Marc L. Salit
As next-generation sequencing is becoming routinely applied to clinical care, the predictive characteristics and limitations of whole exome and whole genome sequencing need to be well-understood. The Genome in a Bottle Consortium has recently published a

Handheld Real-Time PCR Device

January 26, 2016
Author(s)
Christian D. Ahrberg, Robert Ilic, Andreas Manz, Pavel Neu?il
Here we report one of the smallest real-time PCR system up to date with approximate size of 100 mm × 60 mm × 33 mm. The system is an autonomous unit requiring an external 12 V power supply. Four simultaneous reactions are performed in form of virtual

SVClassify: a method to use multiple datasets to classify candidate structural variants into true positives and false positives

January 16, 2016
Author(s)
Justin M. Zook, Hemang M. Parikh, Desu Chen, Hariharan K. Iyer, Marc L. Salit, Wolfgang Losert
The human genome contains variants ranging in size from small single nucleotide polymorphisms (SNPs) to large structural variants (SVs). While high-quality benchmark small variant calls have recently been developed by the Genome in a Bottle Consortium, no

Quantification of Borrelia burgdorferi membrane proteins in human serum: a new concept for detection of bacterial infection

November 17, 2015
Author(s)
Sao F. Cheung, Kyle Anderson, Kenia Benitez, Mark J. Soloski, John N. Aucott, Karen W. Phinney, Illarion Turko
The low abundance of bacterial proteins in human serum upon infection imposes a challenge for the early proteomic detection of bacterial infection. To address this challenge, we propose to take advantage of detecting membrane proteins released from

Benchmarks for genome sequencing

September 23, 2015
Author(s)
Justin M. Zook, Marc L. Salit
In this issue, Griffith et al. present one of the most comprehensive genome-sequence data sets to date from a patient with myeloid leukemia, including sequencing of normal tissue, primary cancer, and a relapse. Their raw data from a variety of sequencing

Evaluation of two mitochondrial DNA biomarkers for prostate cancer detection

August 17, 2015
Author(s)
Samantha D. Maragh, Steven P. Lund
BACKGROUND: A 3.4kb deletion (3.4kbΔ) in mitochondrial DNA (mtDNA) found in histologically normal prostate biopsy specimens has been reported to be a biomarker for the increased probability of prostate cancer. Increased mtDNA copy number is also reported

Quantifying and Improving Clinical-grade Coverage and Accuracy using Augmented Exome Sequencing

July 16, 2015
Author(s)
Justin M. Zook, Anil Patwardhan, Marc L. Salit, Carlos Bustamante, Euan Ashley, Michael Snyder, John West, Richard Chen
Exome sequencing is increasingly used for the clinical evaluation of genetic disease, yet accuracy and coverage in medically interpretable parts of the genome remains under-characterized. We evaluate recently developed exome sequencing platforms in the

An analytical framework for optimizing variant discovery from personal genomes

February 25, 2015
Author(s)
Justin M. Zook, Gareth Highnam, Jason Wang, Dean Kusler, Vinaya Vijayan, Nir Leibovich, David Mittelman
The standardization and performance testing of analysis tools is a prerequisite to widespread adoption of high-throughput sequencing, particularly in the clinic. However, performance testing is currently complicated by the paucity of standards and
Was this page helpful?