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Precision medicine

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Displaying 26 - 50 of 106

A Draft Human Pangenome Reference

May 10, 2023
Author(s)
Wen-Wei Liao, Mobin Asri, Jana Ebler, Jennifer McDaniel, Nathanael David Olson, Justin Wagner, Justin Zook, Erik Garrison, Tobias Marschall, Ira Hall, Heng Li, Benedict Paten
Here the Human Pangenome Reference Consortium presents a first draft of the human pangenome reference. The pangenome contains 47 phased, diploid assemblies from a cohort of genetically diverse individuals1. These assemblies cover more than 99% of the

Variant calling and benchmarking in an era of complete human genome sequences

April 14, 2023
Author(s)
Nathanael David Olson, Justin Wagner, Nathan Dwarshuis, Karen Miga, Marc L. Salit, Justin Zook
Genetic variant calling from DNA sequencing has enabled understanding of germline variation in hundreds of thousands of humans. Sequencing technologies and variant-calling methods have advanced rapidly, routinely providing reliable variant calls in most of

Magnetic Resonance Imaging Biomarker Calibration Service: NMR Measurement of Isotropic Water Diffusion Coefficient

March 30, 2023
Author(s)
Stephen E. Russek, Katy Keenan, Karl Stupic, Nikki Rentz, Michael Boss, Kevin J. Coakley, Amanda Koepke, Cassandra Stoffer
This document describes a calibration service to measure the water diffusion coefficient, or diffusivity, in reference materials and tissue mimics using nuclear magnetic resonance (NMR) techniques. This calibration is restricted to materials which exhibit

Variability in genome-engineering source materials: Consider your starting point

March 10, 2023
Author(s)
Simona Patange, Sierra Miller, Samantha Maragh
The presence and impact of variability in cells as the source material for genome engineering are important to consider for the design, execution and interpretation of outcomes of a genome-engineering process. Variability may be present at the genotype and

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

High-Resolution DNA Binding Kinetics Measurements with Double Gate FD-SOI Transistors

January 23, 2023
Author(s)
Seulki Cho, Alexander Zaslavsky, Curt A. Richter, Jacob Majikes, James Alexander Liddle, Francois Andrieu, Sylvain Barraud, Arvind Balijepalli
Double gate fully depleted SOI transistors operating in a remote gate configuration and under closed-loop feedback allow noise performance that exceeds their single gate counterparts by more than an order of magnitude. We leverage this high performance to

The Proteomics Standards Initiative at Twenty Years: Current Activities and Future Work

January 10, 2023
Author(s)
Eric Deutsch, Juan Antonio Vizcaino, Andrew Jones, Pierre-Alain Binz, Henry Lam, Joshua Klein, Wout Bittremeieux, Yasset Perez-Riverol, David Tabb, Mathias Walzer, Sylvie Ricard-Blum, Henning Hermjakob, Steffen Neumann, Tytus Mak, Shin Kawano, Luis Mendoza, Tim Van Den Bossche, Ralf Gabriels, Nuno Bandeira, Jeremy Carver, Benjamin Pullman, Zhi Sun, Nils Hoffman, Jim Shofstahl, Yunping Zhu, Federica Quaglia, Silvio Tosatto, Sandra Orchard
The Human Proteome Organization (HUPO) Proteomics Standards Initiative (PSI) has been successfully developing guidelines, data formats, and controlled vocabularies (CVs) for the proteomics community and other fields supported by mass spectrometry since its

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

Report from the NIST Workshop: Launch of the Rapid Microbial Testing Methods Consortium

September 27, 2022
Author(s)
Nancy Lin, Scott Jackson, Stephanie Servetas, Kirsten Parratt, Joy Dunkers, Tara Eskandari, Sheng Lin-Gibson
On September 17, 2020, NIST hosted a virtual workshop to launch the Rapid Microbial Testing Methods (RMTM) Consortium. The RMTM Consortium aims to address the need for measurements and standards to increase confidence in the use of rapid testing for

Primary standardization of 212Pb activity by liquid scintillation counting

September 22, 2022
Author(s)
Denis E. Bergeron, Jeffrey T. Cessna, Ryan P. Fitzgerald, Lizbeth Laureano-Perez, Leticia Pibida, Brian E. Zimmerman
An activity standard for 212Pb in equilibrium with its progeny was realized, based on triple-to-double coincidence ratio (TDCR) liquid scintillation (LS) counting. A Monte Carlo-based approach to estimating uncertainties due to nuclear decay data

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

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

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

An assessment of US microbiome research

September 23, 2021
Author(s)
Scott Jackson
Genome-enabled technologies have supported a dramatic increase in our ability to study microbial communities in environments and hosts. Taking stock of previously funded microbiome research can help to identify common themes, under-represented areas and
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