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Displaying 1 - 25 of 97

Small variant benchmark from a complete assembly of X and Y chromosomes

January 8, 2025
Author(s)
Justin Wagner, Nathanael Olson, Jennifer McDaniel, Lindsay Harris, Chunlin Xiao, Fritz Sedlazeck, Kishwar Shafin, Andrew Carroll, Justin Zook
The sex chromosomes contain complex, important genes impacting medical phenotypes, but differ from the autosomes in their ploidy and large repetitive regions. To enable technology developers along with research and clinical laboratories to evaluate variant

The Platinum Pedigree: A long-read benchmark for genetic variants

October 3, 2024
Author(s)
Zev Kronenberg, Nathanael Olson, Justin Zook, Michael Eberle
Recent advances in genome sequencing have improved variant calling in complex regions of the human genome. However, it is difficult to quantify variant calling performance because existing standards often focus on specificity, neglecting completeness in

Jointly benchmarking small and structural variant calls with vcfdist

October 2, 2024
Author(s)
Tim Dunn, Justin Zook, James Holt, Satish Narayanasamy
In this work, we extend vcfdist to be the first variant call benchmarking tool to jointly evaluate phased single-nucleotide polymorphisms (SNPs), small insertions/deletions (INDELs), and structural variants (SVs) for the whole genome. First, we find that a

Genome-wide profiling of genetic variation at tandem repeat from long reads

July 4, 2024
Author(s)
Helyaneh Jam, Justin Zook, Sara Javadzadeh, Jonghun Park, Aarushi Sehgal, Melissa Gymrek
Tandem repeats are frequent across the human genome, and variation in repeat length has been linked to a variety of traits. Recent improvements in long read sequencing technologies have the potential to greatly improve TR analysis, especially for long or

The complete sequence of a human Y chromosome

August 23, 2023
Author(s)
Arang Rhie, Sergey Nurk, Monika Cechova, Savannah Hoyt, Dylan Taylor, Nathanael David Olson, Justin Zook, Adam Phillippy
The human Y chromosome has been notoriously difficult to sequence and assemble because of its complex repeat structure that includes long palindromes, tandem repeats and segmental duplications1,2,3. As a result, more than half of the Y chromosome is

Possible Genetic Risks from Heat-Damaged DNA in Food

June 1, 2023
Author(s)
Yong Woong Jun, Melis Kant, Erdem Coskun, Pawel Jaruga, Miral M. Dizdar, Eric T. Kool
Consumption of foods prepared at high temperatures has been associated with numerous health risks. To date, the chief identified source of risk has been small molecules produced in trace levels by cooking and react with healthy DNA upon consumption. Here

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

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

Fire Burn and Cauldron Bubble: What is in your Genome Editing Brew?

October 28, 2022
Author(s)
Simona Patange, Samantha Maragh
Genome editing is a rapidly evolving biotechnology with the potential to transform many sectors of industry such as agriculture, biomanufacturing, and medicine. This technology is enabled by an ever-growing portfolio of biomolecular reagents that span the

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

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
Displaying 1 - 25 of 97