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Displaying 151 - 166 of 166

Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls

February 16, 2014

Author(s)

Justin M. Zook, Brad Chapman, Winston Hide, Marc L. Salit

Clinical adoption of human genome sequencing requires methods that output genotypes with known accuracy at millions or billions of positions across a genome. Because of substantial discordance among calls made by existing sequencing methods and algorithms

Guidelines for Minimum Information for Publication of Quantitative Digital PCR Experiments

April 9, 2013

Author(s)

Ross J. Haynes, Jim Huggett, Carole Foy, Vladimir Benes, Kerry Emslie, Jeremy Garson, Jan Hellemans, Mikael Kubista, Tania Nolan, Michael Pfaffl, Gregory Shipley, Jo Vandesompele, Carl Wittwer, Stephen Bustin

There is growing interest in the digital polymerase chain reaction (dPCR) as technological progress makes it a practical and increasingly affordable technology. dPCR allows the precise quantification of nucleic acid, facilitating the measurement of small

Next-generation Sequencing: Guidance for the Translation from Research to Clinical Applications

November 8, 2012

Author(s)

Justin M. Zook, Amy Gargis, Lisa Kalman, Ira Lubin

We would like to draw your readers attention to the Next-generation Sequencing: Standardization of Clinical Testing (Nex-StoCT) guidelines, which represent an initial step toward ensuring that the results derived from next-generation sequencing (NGS)

Synthetic spike-in standards improve run-specific systematic error analysis for DNA and RNA sequencing

July 31, 2012

Author(s)

Justin M. Zook, Daniel V. Samarov, Jennifer H. McDaniel, Shurjo Sen, Marc L. Salit

While the importance of random sequencing errors decreases at higher DNA or RNA sequencing depths, systematic sequencing errors (SSEs) dominate at high sequencing depths and can be difficult to distinguish from biological variants. These SSEs can cause

Molecular diagnostics: Harmonization through reference materials, documentary standards and proficiency testing

September 1, 2011

Author(s)

Marcia J. Holden, Roberta M. Madej, Philip Minor, Lisa V. Kalman

There is a great need for harmonization in nucleic acid testing for infectious disease and clinical genetics. The proliferation of assay methods, the number of targets for molecular diagnostics and the dearth of reference materials contribute to

Recent Advances in Electrochemical Glyco-biosensing

April 8, 2011

Author(s)

Rebecca A. Zangmeister, Germarie Sanchez-Pomales

Biosensors based on electrochemical transduction mechanisms have recently made advances into the field of glycan analysis. These glyco-biosensor assays offer simple, rapid, sensitive and economical approaches to the measurement need for rapid glycan

Lambda exonuclease digestion of CGG trinucleotide repeats

June 7, 2009

Author(s)

Richard Conroy, Alan Koretsky, John M. Moreland

Fragile X syndrome and other trinucleotide diseases are characterized by an elongation of a repeating DNA triplet. The ensemble-averaged lambda exonuclease digestion rate of diVerent substrates, including one with an elongated FMR1 gene containing 120 CGG

Methods for the Determination of Torsion Angle Restraints in Biomacromolecules

December 1, 1999

Author(s)

C Griesinger, M Hennig, John Marino, B Reif, C Richter, H Schwalbe