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Health

Clinical diagnostics

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Displaying 76 - 100 of 172

Development of a pregnancy-specific reference material for thyroid biomarkers, vitamin D, and nutritional trace elements in serum

October 24, 2020
Author(s)
Ashley Russell, Lisa Kilpatrick, Carolyn Burdette, Denise S. Tevis, Zachary A. Fultz, Michael Nelson, Jeff M. Jarrett, Stephen A. Wise, Brittany Kassim, Stephen E. Long
Background Concentrations of critical metabolites, hormones, and nutritional elements change significantly throughout pregnancy. Therefore, increased matrix complexity is a challenge for the measurement of these biomarkers. To provide a quality assurance

Certification of Standard Reference Material(R) 955d, Toxic Elements and Metabolites in Frozen Human Blood

October 15, 2020
Author(s)
Lee L. Yu, Karen E. Murphy, Colleen E. Bryan Sallee, Thomas W. Vetter, Robert C. Hagwood, George C. Caceres, Stephen E. Long, J M. Jarrett, M A. Franklin, J Castro Georgi, D M. Jones, Robert Jones, Z Li, Y L. Sommer, D S. Tevis, K Wallon, C D. Ward, M Maras, S Erdahl, C Gilmer, M Wermers, H Woldeysus, K F. Mehigan, M Morrissette, Christopher D. Palmer, Patrick J. Parsons
Standard Reference Material (SRM) 955d is intended for use in validating analytical methods for measuring toxic elements and mercury species in human blood, and in value assigning locally produced control materials analyzed using the validated methods. A

A Diploid Assembly-based Benchmark for Variants in The Major Histocompatibility Complex

September 22, 2020
Author(s)
Justin M. Zook, Justin M. Wagner, Chen-Shan Chin, Qiandong Zeng, Alexander Dilthey, Tobias Marschall, Mikko Rautiainen, Erik Garrison, Shilpa Garg
Most human genomes are characterized by aligning individual reads to the reference genome, but accurate long reads and linked reads now enable us to construct accurate, phased de novo assemblies. We focus on a medically important, highly variable, 5

NIST/NIH Vitamin D Metabolites Quality Assurance Program (VitDQAP): Final Report

September 16, 2020
Author(s)
Katrice A. Lippa, Mary Bedner, Susan Tai, Carolyn Q. Burdette
The National Institute of Standards and Technology (NIST) established a Vitamin D Metabolites Quality Assurance Program (VitDQAP) in collaboration with the National Institutes of Health Office of Dietary Supplements (NIH-ODS) in 2009. The VitDQAP at NIST

Expanding NIST's Calibration of Fluorescent Microspheres for Flow Cytometry to More Fluorescence Channels and Smaller Particles

September 15, 2020
Author(s)
Paul DeRose, Linhua Tian, Elzafir B. Elsheikh, Aaron Urbas, Yu-Zhong Zhang, Hao-Wei Wang
NIST, NIH and other industry stakeholders have been working together to enable fluorescence intensities of flow cytometer calibration beads to be assigned quantitative 'ERF' values with high accuracy and precision. The ultimate goal of this effort is to

Expression of a germline variant in the N-terminal domain of the human DNA glycosylase NTHL1 induces cellular transformation without impairing enzymatic function or substrate specificity

June 16, 2020
Author(s)
Carolyn G. Marsden, Pawel Jaruga, Erdem Coskun, Robyn L. Maher, David S. Pederson, Miral M. Dizdar, Joann B. Sweasy
Oxidatively-induced DNA damage, widely accepted as a key player in the onset of cancer, is predominantly repaired by base excision repair (BER). BER is initiated by DNA glycosylases, which locate and remove damaged bases from DNA. NTHL1 is a bifunctional

A robust benchmark for detection of germline large deletions and insertions

June 15, 2020
Author(s)
Justin Zook, Nathanael David Olson, Marc Salit, Fritz Sedlazeck
New technologies and analysis methods are enabling genomic structural variants (SVs) to be detected with ever-increasing accuracy, resolution and comprehensiveness. To help translate these methods to routine research and clinical practice, we developed a

Assembly and annotation of an Ashkenazi human reference genome

June 2, 2020
Author(s)
Justin M. Zook, Justin M. Wagner, Nathanael D. Olson, Steven L. Salzberg, Alaina Shumate, Aleksey V. Zimin, Daniela Puiu, Mihaela Pertea, Marc Salit
Thousands of experiments and studies use the human reference genome as a resource each year. This single reference genome, GRCh38, is a mosaic created from a small number of individuals, representing a very small sample of the human population. There is a

IFCC working group recommendations for correction of bias caused by non-commutability of a certified reference material used in the calibration hierarchy of an end-user measurement procedure

June 1, 2020
Author(s)
Johanna Camara, W. Greg Miller, Jeffrey R. Budd, Neil Greenberg, Weykamp Cas, Harald Althaus, Heinz Schimmel, Mauro Panteghini, Vincent Delatour, Ferruccio Ceriotti, Thomas Keller, Douglas Hawkins, Robert Rej, Finlay MacKenzie, Elina van der Hagen, Hubert W. Vesper
Establishing metrological traceability to a matrix-based certified reference material (CRM) that has been validated to be commutable among a group of measurement procedures (MPs) is central to producing equivalent results for a measurand in clinical

T1 Mapping Performance and Measurement Stability: Results from the Multi-National T1MES (T1 Mapping and ECV Standardization) Phantom Program

May 7, 2020
Author(s)
Gabriella Captur, Abhiyan Bandari, Ye Yang, Richard James, Giulia Benedetti, Camilla Torlasco, Lewis Ricketts, Redha Boubertakh, Katy Keenan, Ruediger Bruehl, Bernd Itterman, Nasri Fatih, John Greenwood, Leonie Paulis, Chris Lawton, Chiara Bucciarelli-Ducci, Hildo Lamb, Richard Steeds, Steve Leung, Colin Berry, Sinitsyn Valentin, Andrew Flett, Charlotte de Lange, Francesco DeCobelli, Magalie Viallon, Pierre Croisille, David Higgins, Andreas Greiser, Wenjie Peng, Christian Hamilton-Craig, Wendy Strugnell, Tom Dresselaers, Andrea Barison, Dana Dawson, Andrew Taylor, Francois-Pierre Mongeon, Sven Plein, Daniel Messroghli, Mouaz Al-Mallah, Stuart Grieve, Massimo Lombardi, Jihye Jang, Michael Salerno, Nish Chaturvedi, Peter Kellman, David Bluemke, Reza Nezafat, Peter Gatehouse, James C. Moon

Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomes

May 4, 2020
Author(s)
Justin M. Zook, Kishwar Shafin, Trevor Pesout, Ryan Lorig-Roach, Marina Haukness, Hugh E. Olsen, Miten Jain, Benedict Paten
De novo assembly of a human genome using nanopore long-read sequences has been reported, but it used more than 150,000 CPU hours and weeks of wall-clock time. To enable rapid human genome assembly, we present Shasta, a de novo long-read assembler, and

An updated protocol based on CLSI document C37 for preparation of off-the-clot serum from individual units for use alone or to prepare commutable pooled serum reference materials

October 30, 2019
Author(s)
Johanna Camara, Uliana Danilenko, Hubert W. Vesper, Gary L. Myers, Patric A. Clapshaw, W. Greg Miller
Manufacturers of in-vitro diagnostic medical devices, clinical laboratories, research laboratories and calibration laboratories require commutable reference materials that can be used in the calibration hierarchies of medical laboratory measurement

Enhancing the Accuracy of Measurement of Small Molecule Organic Biomarkers

October 30, 2019
Author(s)
Tang Lin Teo, Katrice Lippa, Lindsey Mackay, Sharon Yong, Qinde Liu, Johanna Camara, Vincent Delatour, Tong Kooi Lee, Beatrice Lalere, Gavin O'Connor, Andr? Henrion, Megumi Kato, Jane L. Fernandes, Masahiko Numata, Ha-Jeong Kwon, Ji-Seon Jeong, Bei Xu, Jintana Nammoommoy, Dewei Song, Wagner Wollinger
Over two decades, the Organic Analysis Working Group (OAWG) of the Consultative Committee for Amount of Substance (CCQM) has organised a number of comparisons for clinically relevant small molecule organic biomarkers. These comparisons are hinged upon the

Mass Spectrometry Fingerprints of Small-Molecule Metabolites in Biofluids: Building a Spectral Library of Recurrent Spectra for Urine Analysis

August 18, 2019
Author(s)
Yamil Simon, Ramesh Marupaka, Xinjian Yan, Yuxue Liang, Kelly H. Telu, Yuri Mirokhin, Stephen E. Stein
A large fraction of ions observed in electrospray liquid chromatography–mass spectrometry (LC–ESI-MS) experiments of biological samples remain unidentified. One of the main reasons for this is that spectral libraries of pure compounds fail to account for

Biodegradable biliverdin nanoparticles for efficient photoacoustic imaging

June 27, 2019
Author(s)
Parinaz Fathi, Knox J. Hailay, Dinabandhu Sar, Indu Tripathi, Ostadhossein Fatemeh, Misra K. Santosh, Mandy Esch, Jefferson Chan, Dipanjan Pan
Here we report the synthesis of nanoparticles composed of Biliverdin cross-linked with a bifunctional amine functionalized linker. The nanoparticles display high absorbance at 365 nm and 680 nm, fluorescence when excited at 365 nm, and photoacoustic

High-coverage, long-read sequencing of Chinese trio reference samples

June 14, 2019
Author(s)
Justin M. Zook, Nathanael D. Olson, Marc L. Salit, Aaron Wenger, Chunlin Xiao, Robert Sebra
Genome In a Bottle (GIAB) is a consortium hosted by the National Institute of Standards and Technology whose primary objective is the development and characterization of human genomic reference materials. The consortium includes representatives from

An open resource for accurately benchmarking small variant and reference calls

April 1, 2019
Author(s)
Justin M. Zook, Jennifer H. McDaniel, Marc L. Salit, Nathanael D. Olson, Justin M. Wagner
Benchmark small variant calls are required for developing, optimizing and assessing the performance of sequencing and bioinformatics methods. Here, as part of the Genome in a Bottle (GIAB) Consortium, we apply a reproducible, cloud-based pipeline to
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