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Displaying 101 - 125 of 848

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

Reference Materials for MS-based Untargeted Metabolomics and Lipidomics: A Review by the Metabolomics Quality Assurance and Quality Control Consortium (mQACC)

April 9, 2022
Author(s)
Katrice Lippa, William Davis, Christina Jones, Tracey Johnston, Juan Aristizabal-Henao, Richard Beger, John Bowden, Corey Broeckling, Chris Beecher, Warwick Dunn, Roberto Flores, Goncalo Gouveia, Thomas Hartung, Matthew Lewis, Ioanna Ntai, Andrew Percy, Dan Raftery, Jinchun Sun, Georgios Theodoridis, Fariba Tayyari, Federico Torta, Candice Ulmer, Baljit Ubhi
Introduction The metabolomics quality assurance and quality control consortium (mQACC) is enabling the identification, development, prioritization and promotion of suitable reference materials (RMs) to be used in quality assurance (QA) and quality control

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

Federal Research Priorities to Support Wastewater Surveillance for SARS-CoV-2

March 30, 2022
Author(s)

Sally Gutierrez, Nancy Lin, Jessica Sweeney

Almost immediately after the start of the COVID-19 pandemic in 2020, researchers and wastewater utilities around the world began analyzing untreated wastewater for the SARS-CoV-2 RNA. These efforts were largely based on prior experience analyzing

Disinfection of Respirators with Ultraviolet Radiation

March 25, 2022
Author(s)
Dianne L. Poster, Matthew Hardwick, C Cameron Miller, Michael A. Riley, W. W. Shanaka I. Rodrigo, Andras E. Vladar, John D. Wright, Christopher D. Zangmeister, Clarence Zarobila, Jeremy Starkweather, John Wynne, Jason Yilzarde
Data for interpreting virus inactivation on N95 face filtering respirators (FFRs) by ultraviolet (UV) radiation are important in developing UV strategies for N95 FFR disinfection and reuse for any situation, whether it be everyday practices, contingency

Models for an Ultraviolet-C Research and Development Consortium

March 25, 2022
Author(s)
Dianne L. Poster, C Cameron Miller, Yaw S. Obeng, John J. Kasianowicz, Michael T. Postek, Norman Horn, Troy Cowan, Richard Martinello
The development of an international, precompetitive, collaborative, ultraviolet (UV) research consortium is discussed as an opportunity to lay the groundwork for a new UV commercial industry and the supply chain to support this industry. History has

Development of Kudzu (Pueraria montana var. lobata) Reference Materials for the Determination of Isoflavones and Toxic Elements

February 21, 2022
Author(s)
J. Andreas Lippert, Kate Rimmer, Melissa M. Phillips, Michael Nelson, Chuck Barber, Laura J. Wood, Marie Ale, Kaitlyn Chieh, Stephen Long, Colleen E. Bryan Sallee, Shannon Whitehead, Katherine E. Sharpless, James H. Yen, Danica Raynaud, Joesph Betz, Adam Kuszak, Stephen Wise
As part of a collaboration with the Office of Dietary Supplements at the National Institutes of Health (NIH-ODS), the National Institute of Standards and Technology (NIST) recently issued a suite of new botanical matrix Reference Materials (RMs) and

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

Development and Evaluation of Bluetooth Low-Energy Device for Electronic Encounter Metrics

January 20, 2022
Author(s)
Katy Keenan, Joe Aumentado, Harold Booth, Kimberly Briggman, Mikail Kraft-Molleda, Michele Martin, Rene Peralta, Angela Robinson, Krister Shalm, Michelle Stephens, Emily Townsend, Sae Woo Nam
The coronavirus disease 2019 (COVID-19) pandemic led to the need for tracking of physical contacts and potential exposure to disease. Traditional contact tracing can be augmented by electronic tools called "electronic contact tracing" or "exposure

Inhibition by Tetrahydroquinoline Sulfonamide Derivatives of the Activity of Human 8-Oxoguanine DNA Glycosylase (OGG1) for Several Products of Oxidatively-induced DNA Base Lesions

December 17, 2021
Author(s)
Miral M. Dizdar, Melis Kant, Pawel Jaruga, Erdem Coskun, Yu-Ki Tahara, R. S. Lloyd, Eric T. Kool
DNA glycosylases involved in the first step of the base excision repair pathway of DNA repair are promising targets in cancer therapy. There is evidence that reduction of their activities may enhance cell killing in malignant tumors. Recently, two

Highly conserved s2m element of SARS-CoV-2 dimerizes via a kissing complex and interacts with host miRNA-1307-3p

December 1, 2021
Author(s)
Joshua A. Imperatore, Caylee L. Cunningham, Kendy A. Pellegrene, Robert Brinson, John Marino, Jeffery D. Evanseck, Mihaela R. Mihailescu
The ongoing COVID-19 pandemic highlights the necessity for a more fundamental understanding of the coronavirus life cycle. The causative agent of the disease, SARS-CoV-2, is being studied extensively from a structural standpoint in order to gain insight

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

Critical Capability Needs for Reduction of Transmission of SARS-CoV-2 Indoors

September 30, 2021
Author(s)
Jayne B. Morrow, Aaron Packman, Kenneth F. Martinez, Kevin V. Wymelenberg, Darla Geores, Delphine K. Farmer, Jade Mitchell, Lisa Ng, Yair Hazi, Monica Schoch-Spana, Sandra Quinn, Bill Bahnfleft, Paula Olsiewski
Coordination of efforts to assess the challenges and pain points felt by industries from around the globe working to reduce COVID-19 transmission in the indoor environment as well as innovative solutions applied to meet these challenges is mandatory

Parametric optimization of an air-liquid interface system for flow through inhalation exposure to nanoparticles: assessing dosimetry and intracellular uptake of CeO2 nanoparticles

September 29, 2021
Author(s)
Lars Leibrock, Harald Jungnickel, Jutta Tentschert, Aaron Katz, Blaza Toman, Elijah Petersen, Frank Bierkandt, Ajay V. Singh, Peter Laux, Andreas Luch
Air-liquid interface (ALI) systems have been widely used in recent years to investigate the inhalation toxicity of many gaseous compounds, chemicals, and nanomaterials and represent an emerging and promising in vitro method to supplement or ultimately

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

Accurate and Robust Trypan Blue-Based Cell Viability Measurement Using Neural Networks

July 19, 2021
Author(s)
Adele Peskin, Steven Lund, Chenyi Ling, Laura Pierce, Sumona Sarkar, Firdavs Kurbanov, Michael Halter, Joe Chalfoun, John T. Elliott
Trypan blue dye exclusion-based cell viability measurements are highly dependent upon image quality and consistency. In order to make measurements repeatable, one must be able to reliably capture images at a consistent focal plane, and with signal-to-noise
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