U.S. flag

An official website of the United States government

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Bioscience

Genomics

Search Publications

Search Title, Abstract, Conference, Citation, Keyword or Author
  • Published Date
Displaying 26 - 50 of 166

Reference Material 8376 Microbial Pathogen DNA Standards for Detection and Identification

June 1, 2022
Author(s)
Jason Kralj, Dieter Tourlousse, Monique Hunter, Erica Romsos, Blaza Toman, Peter Vallone, Scott Jackson
Reference Material (RM) 8376 is intended for NGS-based measurements quantitative to the chromosome. A unit of RM 8376 consists of 20 components (A-T, 19 bacteria and 1 human) each containing well-characterized DNA in 10 mmol/L Tris-HCl, 1 mmol/L EDTA pH 8

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

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)

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

RNA reference materials with defined viral RNA loads of SARS-CoV-2 - A useful tool towards a better PCR assay harmonization

January 20, 2022
Author(s)
Laura Vierbaum, Nathalie Wojtalewicz, Vanessa Lindig, Ulf Duhring, Hans-Peter Grunert, Christian Drosten, Victor Corman, Daniela Niemeyer, Sandra Ciesek, Holger Rabenau, Annemarie Berger, Martin Obermeier, Andreas Nitsche, Janine Michel, Martin Mielke, Jim Huggett, Denise O'Sullivan, Simon Cowen, Megan Cleveland, Peter Vallone, Samreen Falak, Andreas Kummrow, Thomas Keller, Ingo Schellenberg, Heinz Zeichhardt, Martin Kammel
The outbreak and pandemic spread of SARS-CoV-2, the cause of the novel coronavirus disease (COVID-19), led to the need for a reliable detection method to track the circulation of this virus. After introducing PCR methods for genome detection of SARS-CoV-2

Improving end-user trust in the quality of commercial probiotic products

September 24, 2021
Author(s)
Scott Jackson, Jean Schoeni, Buffy Stahl
In a rapidly growing global probiotic market, end-users have difficulty distinguishing between high quality and poor quality products. This threatens consumer and healthcare provider trust in probiotic products. To address this problem, we recommend that

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

Current Explorations of Nutrition and the Gut Microbiome: A Systematic Review

September 23, 2021
Author(s)
Scott Jackson, Leigh A. Frame, Elise Costas
Background The ability to measure and describe the microbiome has led to a surge in information about the gut microbiome and its role in health and disease. The relationship between nutrition and the gut microbiome is central, as the diet is a source of