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NIST Authors in Bold

Displaying 1 - 25 of 696

Revision of the SNPforID 34-plex forensic ancestry test: Assay enhancements, standard reference sample genotypes and extended population studies

May 3, 2021
John M. Butler, Manuel Fondevila, Carla Santos, Ana Freire, Christopher Phillips, M Lareu, Peter Vallone
A revision of an established 34 SNP forensic ancestry test has been made by swapping the under- performing rs727811 component SNP with the highly informative rs3827760 that shows a near-fixed East Asian specific allele. We collated SNP variability data for

National Institute of Standards and Technology Environmental Scan 2020

February 9, 2021
Heather M. Evans, Kristen Greene, William M. Healy, Elizabeth A. Hoffman, Catherine A. Rimmer, Anna V. Sberegaeva, Neil M. Zimmerman
The 2020 National Institute of Standards and Technology Environmental Scan provides an analysis of key external factors that could impact NIST and the fulfillment of its mission in coming years. The analyses were conducted through four separate lenses

Chromosome-scale, haplotype-resolved assembly of human genomes

December 7, 2020
Justin Zook, Shilpa Garg, Heng Li
Haplotype-resolved or phased genome assembly provides a complete picture of genomes and their complex genetic variations. However, current algorithms for phased assembly either do not generate chromosome-scale phasing or require pedigree information, which

A NIST-Hosted Virtual Workshop on Measuring SARS-CoV-2 in Wastewater and Fecal Material: A Call for Standards

September 28, 2020
Sandra M. Da Silva, Paulina K. Piotrowski, Christina M. Jones, Stephanie L. Servetas, Nancy J. Lin, Katrice A. Lippa, Scott A. Jackson
The National Institute of Standards and Technology (NIST) has leveraged its expertise in chemical and biological metrology and standards development as well as its strong relationships with stakeholders to host a virtual workshop on June 16, 2020 that

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

September 22, 2020
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

A robust benchmark for detection of germline large deletions and insertions

June 15, 2020
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
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

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

May 4, 2020
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

Ion-beam radiation damage to DNA by investigation of free radical formation and base damage

March 1, 2020
Melis Kant, Pawel Jaruga, Erdem Coskun, Samuel Ward, Alexander Stark, David Becker, Amitav Adhikary, Michael Sevilla, M Miral Dizdar
This work investigated the physicochemical processes and DNA base products involved in Ne-22 ion- beam (ca. 1.4 GeV) radiation damage to hydrated (12 waters/nucleotide) highly polymerized salmon sperm DNA. For this purpose, approximately 12 small (ca. 10

Measurement of PARP1 in human tissues by liquid chromatography tandem mass spectrometry

March 1, 2020
Erdem Coskun, Gamze Tuna, Pawel Jaruga, Alessandro Tona, Onur Erdem, M Miral Dizdar
Poly(ADP ribose) polymerase 1 (PARP1) is a multifunctional DNA repair protein of the base excision repair pathway and plays a major role in the repair of DNA strand breaks and in replication and transcriptional regulation among other functions. Mounting

Structure of the cell-binding component of the Clostridium difficile binary toxin reveals a di- heptamer macromolecular assembly

January 14, 2020
Xingjian Xu, Raquel Ruiz, Kaylin Adipietro, Christopher Peralta, Danya Ben-Hail, Kristen Varney, Mary Cook, Braden Roth, Paul Wilder, Thomas E. Cleveland, Alexander V. Grishaev, Heather Neu, Sarah Michel, Wenbo Yu, Dorothy Beckett, Richard Rustandi, Alex MacKerell, Amedee des Georges, Edwin Pozharski, David Weber
Targeting Clostridium difficile infection is challenging because treatment options are limited, and high recurrence rates are common. One reason for this is that hypervirulent C. difficile strains often have a binary toxin termed the C. difficile toxin, in

Measurement of Airborne Emissions from Extinguished Cigarettes: Final Report

December 16, 2019
Dustin G. Poppendieck
Three series of experiments were conducted in this study. First, studies were performed to the determine the relative distributions of the target chemicals in freshly smoked butts by analyzing six types of samples consisting of different parts of the butts

Understanding the characteristics of sequence-based single-source DNA profiles

November 9, 2019
Sarah Riman, Hariharan K. Iyer, Lisa A. Borsuk, Peter M. Vallone
The sequencing of STR markers provides additional information present in the underlying sequence variation that is typically masked by traditional fragment-based genotyping. However, the interpretation of STR profiles generated by targeted sequencing

Metabolomics Test Materials for Quality Control: A Study of a Urine Materials Suite

November 7, 2019
Dan Bearden, David A. Sheen, Yamil Simon, Bruce A. Benner Jr., Werickson Fortunato de Carvalho Rocha, Niksa Blonder, Katrice A. Lippa, Richard Beger, Laura Schnackenberg, Jinchun Sun, Khyati Mehta, Amrita Cheema, Haiwei Gu, Ramesh Marupaka, Nagana Gowda, Daniel Raftery
There is a lack of experimental reference materials and standards for metabolomics measurements, such as urine, plasma, and other human fluid samples. Reasons include difficulties with supply, distribution, and dissemination of information about the

Recognition of DNA adducts by edited and unedited forms of DNA glycosylase NEIL1

November 2, 2019
Irina G. Minko, Vladimir Vartanian, Naoto Tozaki, Erdem Coskun, Sanem Hosbas Coskun, Pawel Jaruga, J Yeo, M.P. Stone, M Egli, M Miral Dizdar, Amanda K. McCullough, R S. Lloyd
Pre-mRNA encoding human NEIL1 undergoes editing by adenosine deaminase ADAR1 that converts a single adenosine to inosine, and this conversion results in an amino acid change of lysine 242 to arginine. Previous investigations of the catalytic efficiencies

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
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
Displaying 1 - 25 of 696