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Bioscience

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Displaying 176 - 200 of 2353

Benchmarking challenging small variants with linked and long reads

May 11, 2022
Author(s)
Justin Wagner, Nathanael David 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 Schock, 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

Complete genomic and epigenetic maps of human centromeres

April 1, 2022
Author(s)
Nicolas Altemose, Glennis Logsdon, Andrey Bzikadze, Pragya Sidhwani, Sasha Langley, Gina Caldas, Justin Zook, Ivan Alexandrov, Karen Miga
Existing human genome assemblies have almost entirely excluded repetitive sequences within and near centromeres, limiting our understanding of their organization, evolution, and functions, which include facilitating proper chromosome segregation. Now, a

The complete sequence of a human genome

March 31, 2022
Author(s)
Sergey Nurk, Sergey Koren, Arang Rhie, Mikko Rautiainen, Jennifer McDaniel, Nathanael David Olson, Justin Wagner, Justin Zook, Evan Eichler, Karen Miga, Adam Phillippy
Since its initial release in 2000, the human reference genome has covered only the euchromatic fraction of the genome, leaving important heterochromatic regions unfinished. Addressing the remaining 8% of the genome, the Telomere-to-Telomere (T2T)

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

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
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