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Health

Clinical diagnostics

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Displaying 26 - 50 of 155

Possible Genetic Risks from Heat-Damaged DNA in Food

June 1, 2023
Author(s)
Yong Woong Jun, Melis Kant, Erdem Coskun, Pawel Jaruga, Miral M. Dizdar, Eric T. Kool
Consumption of foods prepared at high temperatures has been associated with numerous health risks. To date, the chief identified source of risk has been small molecules produced in trace levels by cooking and react with healthy DNA upon consumption. Here

Determination of 24,25-dihydroxyvitamin D3 in Vitamin D External Quality Assessment Scheme samples using a reference measurement procedure

May 9, 2023
Author(s)
Stephen Wise, Grace Hahm, Carolyn Burdette, Susan Tai, Johanna Camara, Adam Kuszak, Emma Williams
Ninety archived human serum samples from the Vitamin D External Quality Assessment Scheme (DEQAS) were analyzed using a reference measurement procedure (RMP) based on isotope dilution liquid chromatography - tandem mass spectrometry (ID LC-MS/MS) for the

Certification of Standard Reference Material(R) 917d D Glucose (Dextrose)

March 1, 2023
Author(s)
Michael Nelson, Brian Lang, Blaza Toman, Jerome Mulloor
Standard Reference Material (SRM) 917d D Glucose (Dextrose) is certified as a chemical substance of known high purity. It is intended for use in calibrating measuring systems for glucose determinations employed in clinical analysis. A unit of SRM 917d

Development of an Improved Standard Reference Material for Folate Vitamers in Human Serum

December 12, 2022
Author(s)
Johanna Camara, Jeanita Pritchett, Yasmine Daniels, Mary Bedner, Michael Nelson, Mark Lowenthal, Zia Fazili, Christine Pfeiffer, Karen W. Phinney, Katherine E. Sharpless, Lane C. Sander, Katrice Lippa, James H. Yen, Adam Kuszak, Stephen Wise
The US National Institute of Standards and Technology (NIST) developed a Standard Reference Material® (SRM®) 3949 Folate Vitamers in Frozen Human Serum to replace SRM 1955 Homocysteine and Folate in Human Serum. The presence of increased endogenous levels

Health Assessment Measurements Quality Assurance Program: Exercise 7 Final Report

December 5, 2022
Author(s)
Chuck Barber, Carolyn Burdette, Hugh Hayes, Monique Johnson, Shaun Kotoski, Jacolin Murray, Melissa M. Phillips, Kate Rimmer, Andrea Yarberry, Laura J. Wood
The Health Assessment Measurements Quality Assurance Program (HAMQAP) was launched in collaboration with the National Institutes of Health (NIH) Office of Dietary Supplements (ODS) in 2017. HAMQAP was established to enable laboratories to improve the

Benchmarking challenging small variants with linked and long reads

May 11, 2022
Author(s)
Justin Wagner, Nathanael Olson, Lindsay Harris, Marc L. Salit, Fritz Sedlazeck, Chunlin Xiao, Justin Zook
Genome in a Bottle benchmarks are widely used to help validate clinical sequencing pipelines and develop variant calling and sequencing methods. Here we use accurate linked and long reads to expand benchmarks in 7 samples to include difficult-to-map

A complete reference genome improves analysis of human genetic variation

April 1, 2022
Author(s)
Sergey Aganezov, Stephanie Yan, Daniela Soto, Melanie Kirsche, Samantha Zarate, Justin Wagner, Jennifer McDaniel, Nathanael David Olson, Rajiv McCoy, Megan Dennis, Justin Zook, Michael Schatz
Compared to its predecessors, the Telomere-to-Telomere CHM13 genome adds nearly 200 million base pairs of sequence, corrects thousands of structural errors, and unlocks the most complex regions of the human genome for clinical and functional study. We show

Electrochemically Assaying Dopamine with p-Doped Silicon Nanowires

March 14, 2022
Author(s)
Nawaraj Karki, Albert Davydov, Sergiy Krylyuk, Charles Chusuei
Neuroblastoma, a pediatric cancer, is characterized by high urinary excretion of dopamine (DA). Silicon nanowires (SiNWs), which are nontoxic and known to resist surface fouling in biological samples, were investigated for practical use as working

Curated variation benchmarks for challenging medically relevant autosomal genes

February 7, 2022
Author(s)
Justin Wagner, Nathanael David Olson, Lindsay Harris, Jennifer McDaniel, Fritz Sedlazeck, Chen-Shan Chin, Justin Zook
The repetitive nature and complexity of some medically relevant genes poses a challenge for their accurate analysis in a clinical setting. The Genome in a Bottle Consortium has provided variant benchmark sets, but these exclude nearly 400 medically

Assessment of Serum Total 25-Hydroxyvitamin D Assays for Vitamin D External Quality Assessment Scheme (DEQAS) Materials Distributed at Ambient and Frozen Conditions

November 9, 2021
Author(s)
Johanna Camara, Christopher T. Sempos, Emma L. Williams, Graham D. Carter, Julia C. Jones, Carolyn Burdette, Grace Hahm, Federica Nalin, David L. Duewer, Adam J. Kuszak, J. M. Betz, Andrew Hoofnagle, Pierre Lukas, E. Cavalier, Ramon Durazo-Arvizu, P. M. Crump, Christian Popp, Christian Beckert, Glen Van Slooten, Patrick Gradon, Joelle Morgand, Sarah Paul, Bruno Emanuelli, Angelo Maggio, Fiona Ivison, Ralf Fischer, Jody M. van den Ouweland, Chung S. Ho, Emmett W. Law, Jean-Nicolas Simard, Renaud Gonthier, Brett Holmquist, Manisha S. Patwardhan, Marcelo C. Batista, Heather Pham, Sarah Meadows, Eugene Jansen, Dilshad A. Khan, Kimberly Robyak, Mark Kilbane, Neil Parker, Vincent Chen, Robert Fitzgerald, Sohail Mushtaq, Michael W. Clarke, Norma Breen, Christine Simpson, Stephen A. Wise
The Vitamin D External Quality Assessment Scheme (DEQAS) distributes human serum samples four times per year to over 1000 participants worldwide for the determination of total serum 25-hydroxyvitamin D [25(OH)D)]. These samples are stored at −40 °C prior

Optimizing Available Tools for Obtaining Result Standardization: A Joint Committee on Traceability in Laboratory Medicine (JCTLM) Project

October 12, 2021
Author(s)
Mauro Panteghini, Federica Braga, Johanna Camara, Vincent Delatour, Katleen Van Uytfanghe, Hubert Vesper, Tianjiao Zhang
BACKGROUND: The JCTLM created a Task Force on Reference Measurement System Implementation (TFRMSI) to provide guidance on metrological traceability implementation for the in vitro diagnostics (IVD) community. CONTENT: TF-RMSI investigated the reference

An assessment of US microbiome research

September 23, 2021
Author(s)
Scott Jackson
Genome-enabled technologies have supported a dramatic increase in our ability to study microbial communities in environments and hosts. Taking stock of previously funded microbiome research can help to identify common themes, under-represented areas and

Current Explorations of Nutrition and the Gut Microbiome: A Systematic Review

September 23, 2021
Author(s)
Scott Jackson, Leigh A. Frame, Elise Costas
Background The ability to measure and describe the microbiome has led to a surge in information about the gut microbiome and its role in health and disease. The relationship between nutrition and the gut microbiome is central, as the diet is a source of

Health Assessment Measurements Quality Assurance Program: Exercise 6 Final Report

September 20, 2021
Author(s)
Chuck Barber, Carolyn Burdette, Hugh Hayes, Monique Johnson, Shaun Kotoski, Jacolin Murray, Melissa M. Phillips, Kate Rimmer, Laura J. Wood, Andrea Yarberry
The Health Assessment Measurements Quality Assurance Program (HAMQAP) was launched in collaboration with the National Institutes of Health (NIH) Office of Dietary Supplements (ODS) in 2017. HAMQAP was established to enable laboratories to improve the

Certification of Standard Reference Materials(R) 2969 and 2970: Vitamin D Metabolites in Frozen Human Serum (Total 25-Hydroxyvitamin D Low Level) and (25-Hydroxyvitamin D2 High Level)

September 2, 2021
Author(s)
Grace Hahm, Michael Nelson, Johanna Camara, Blaza Toman
Standard Reference Materials (SRMs) 2969 and 2970 are intended for 1) use in validating methods for determining concentrations of 25-hydroxyvitamin D2 (25(OH)D2) and 25-hydroxyvitamin D3 (25(OH)D3) in human serum and plasma and 2) value assigning in house

Interlaboratory Comparison of 25-Hydroxyvitamin D Assays: Vitamin D Standardization Program (VDSP) Intercomparison Study 2 - Part 2 Immunoassays - Impact of 25 Hydroxyvitamin D2 and 24R,25-Dihydroxyvitamin D3 on Assay Performance

August 27, 2021
Author(s)
Stephen Wise, Johanna Camara, Carolyn Burdette, Grace Hahm, Federica Nalin, Adam Kuszak, Joyce Merkel, Ramon Durazo-Arvizu, Emma Williams, Christian Popp, Christian Beckert, Jan Schultess, Glen Van Slooten, Carole Tourneur, Camille Pease, Kavi Kaul, Alfredo Villarreal, Marcelo Batista, Heather Pham, Alex Bennett, Eugene Jansen, Dilshad Khan, Mark Kilbane, Patrick Twomey, James Freeman, Neil Parker, Sohail Mushtaq, Christine Simpson, Pierre Lukas, Etienne Cavalier, Christopher Sempos
An interlaboratory comparison study was conducted by the Vitamin D Standardization Program (VDSP) to assess the performance of immunoassays (Part 2) for the determination of serum total 25 hydroxyvitamin D [25(OH)D]. A set of 50 single-donor samples was

Interlaboratory Comparison of 25-Hydroxyvitamin D Assays: Vitamin D Standardization Program (VDSP) Intercomparison Study 2 - Part 1 Liquid Chromatography - Tandem Mass Spectrometry (LC-MS/MS) Assays - Impact of 3-epi-25-Hydroxyvitamin D3

August 27, 2021
Author(s)
Stephen Wise, Johanna Camara, Carolyn Burdette, Grace Hahm, Federica Nalin, Adam Kuszak, Joyce Merkel, Ramon Durazo-Arvizu, Emma Walker, Andrew Hoofnagle, Fiona Ivison, Ralf Fischer, Jody van den Ouweland, Chung Ho, Emmet Law, Jean-Nicolas Simard, Renaud Gonthier, Brett Holmquist, Sarah Meadows, Lorna Cox, Kimberly Robyak, Michael Creer, Robert Fitzgerald, Michael Clarke, Norma Breen, Pierre Lukas, Etienne Cavalier, Christopher Sempos
An interlaboratory comparison study was conducted by the Vitamin D Standardization Program (VDSP) to assess the performance of liquid chromatography – tandem mass spectrometry (LC-MS/MS) assays used for the determination of serum total 25-hydroxyvitamin D

Challenges of Accuracy in Germline Clinical Sequencing Data

July 20, 2021
Author(s)
Justin Zook, Ryan Poplin, Mark DePristo
Physicians are increasingly using clinical sequencing tests to establish diagnoses of patients who might have genetic disorders, which means that accuracy of sequencing and interpretation are important elements in ensuring the benefits of genetic testing
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