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Displaying 201 - 225 of 1605

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

September 28, 2020
Author(s)
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
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

Improving patient outcomes with regenerative medicine: How to move the needle forward in cell manufacturing, standards, 3D bioprinting, AI enabled automation, education and training

June 17, 2020
Author(s)
Carl Simon Jr., Josh Hunsberger, Claudia Zylberberg, Preveen Ramamoorthy, Thomas Tubon, Crystal Ruff, Ram Bedi, Kurt Gielen, Lynn Fisher, Jed Johnson, Priya Barankiak, Behzad Mahdavi, Michael Hadjisavas, Shannon Eaker, Cameron Miller
Regenerative Medicine Manufacturing Society (RMMS), is the first and only professional society dedicated specifically towards advancing manufacturing solutions for the field of regenerative medicine. RMMS' vision is to provide greater patient access 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

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
Displaying 201 - 225 of 1605