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Health

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Displaying 76 - 100 of 1612

FixItFelix: improving genomic analysis by fixing reference errors

February 21, 2023
Author(s)
Sairam Behera, Jonathan LeFaive, Peter Orchard, Justin Zook, Fritz Sedlazeck
The current version of the human reference genome, GRCh38, contains a number of errors including 1.2 Mbp of falsely duplicated and 8.04 Mbp of collapsed regions. These errors impact the variant calling of 33 protein-coding genes, including 12 with medical

Cannabis Quality Assurance Program: Exercise 2 Toxic Elements Final Report

December 15, 2022
Author(s)
Chuck Barber, Colleen E. Bryan Sallee, Carolyn Burdette, Shaun Kotoski, Melissa M. Phillips, Walter Brent Wilson, Laura Wood
In 2020, NIST launched CannaQAP to improve the comparability of the analytical measurements of cannabis and cannabis-derived products in forensic and cannabis (hemp and marijuana) testing laboratories. CannaQAP is an interlaboratory study mechanism that is

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

Life History, Contaminant and Histopathologic Assessment of Beluga Whales, Delphinapterus leucas, Harvested for Subsistence in Cook Inlet, Alaska, 1989-2005

November 16, 2022
Author(s)
Kathy Burek-Huntington, Kim Shelden, Kim Goetz, Barbara Mahoney, Dan Vos, Jessica Reiner, Jennifer Hoguet, Greg O'Corry-Crowe
Throughout the State of Alaska, ranging from the eastern Beaufort Sea to Bristol Bay, and within the boundaries of Cook Inlet, belugas are an important subsistence resource for Native communities. Cook Inlet belugas (CIBs, Delphinapterus leucas) are

Sensor Technologies for Quality Control in Engineered Tissue Manufacturing

October 27, 2022
Author(s)
Mary Clare McCorry, Marcie Black, Chrysanthi Williams, Greta Babakhanova, Sumona Sarkar, Nathan Swami, Katherine A. Mirica, Sarah Boermeester, Abbie Underhill
The use of engineered cells, tissues, and organs has the opportunity to change the way injuries and diseases are treated. Commercialization of these groundbreaking technologies has been limited in part by the complex and costly nature of their manufacture

Semi-automated assembly of high-quality diploid human reference genomes

October 19, 2022
Author(s)
Erich Jarvis, Giulio Formenti, Jennifer McDaniel, Nathanael David Olson, Justin Wagner, Justin Zook, Kerstin Howe, Karen Miga
The current human reference genome, GRCh38, represents over 20 years of effort to generate a high-quality assembly, which has benefitted society. However, it still has many gaps and errors, and does not represent a biological genome as it is a blend of
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