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Bioscience

Genomics

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Displaying 126 - 150 of 166

Development and Characterization of Reference Materials for Genetic Testing

November 1, 2016
Author(s)
Justin M. Zook, Marc L. Salit, Lisa V. Kalman, Mickey Williams, Vivekananda Datta, Jin-Yeong Han
Characterized reference materials (RM) are needed for test development and validation, quality control procedures and proficiency testing to assure the quality of clinical laboratory tests. In this article, we review the development and characterization of

Standards for cell line authentication and beyond

June 14, 2016
Author(s)
Jamie L. Almeida, Kenneth D. Cole, Anne L. Plant
Different genomic technologies have been applied to cell line authentication, but only one method (short tandem repeat profiling) has been the subject of a comprehensive standard (ASN-0002). Here we discuss the power of this document, and why standards

Wide-field quantitative imaging of tissue microstructure using high-frequency structured light

June 9, 2016
Author(s)
David McClatchy III, Elizabeth Rizzo, wendy wells, Jeeseong C. Hwang, keith paulson, Brian Pogue, Stephen Kanick
Sub-diffusive structured light imaging has been shown to accurately and quantitatively map the reduced scattering coefficient and the phase function backscatter parameter in a wide-field geometry. This study shows the first the experimental imaging of

A Roadmap for Regulatory Science Research for Next Generation Sequencing Informatics

April 20, 2016
Author(s)
Justin M. Zook, Marc L. Salit, Russ B. Altman, Arend Sidow, Rachel Goldfeder, Euan Ashley, Elizabeth Mansfield
The Precision Medicine Initiative (PMI) is a national effort in the United States “to enable a new era of medicine through research, technology, and policies that empower patients, researchers, and providers to work together toward development of

Clinical Implications of Technical Performance in Medical Genome Sequencing

March 2, 2016
Author(s)
Justin M. Zook, James Priest, Rachel Goldfeder, Megan Grove, Daryl Waggott, Matthew Wheeler, Euan Ashley, Marc L. Salit
As next-generation sequencing is becoming routinely applied to clinical care, the predictive characteristics and limitations of whole exome and whole genome sequencing need to be well-understood. The Genome in a Bottle Consortium has recently published a

SVClassify: a method to use multiple datasets to classify candidate structural variants into true positives and false positives

January 16, 2016
Author(s)
Justin M. Zook, Hemang M. Parikh, Desu Chen, Hariharan K. Iyer, Marc L. Salit, Wolfgang Losert
The human genome contains variants ranging in size from small single nucleotide polymorphisms (SNPs) to large structural variants (SVs). While high-quality benchmark small variant calls have recently been developed by the Genome in a Bottle Consortium, no

Evaluation of two mitochondrial DNA biomarkers for prostate cancer detection

August 17, 2015
Author(s)
Samantha D. Maragh, Steven P. Lund
BACKGROUND: A 3.4kb deletion (3.4kbΔ) in mitochondrial DNA (mtDNA) found in histologically normal prostate biopsy specimens has been reported to be a biomarker for the increased probability of prostate cancer. Increased mtDNA copy number is also reported

Quantifying and Improving Clinical-grade Coverage and Accuracy using Augmented Exome Sequencing

July 16, 2015
Author(s)
Justin M. Zook, Anil Patwardhan, Marc L. Salit, Carlos Bustamante, Euan Ashley, Michael Snyder, John West, Richard Chen
Exome sequencing is increasingly used for the clinical evaluation of genetic disease, yet accuracy and coverage in medically interpretable parts of the genome remains under-characterized. We evaluate recently developed exome sequencing platforms in the

Genomic Reference Materials for Clinical Application

November 21, 2014
Author(s)
Justin M. Zook, Marc L. Salit
Reference Materials are well-characterized, homogeneous, and stable samples that can be used to understand measurement performance. The Genome in a Bottle Consortium is developing whole human genome DNA Reference Materials from large batches of DNA

High-Speed Coherent Raman Fingerprint Imaging of Biological Tissues

July 20, 2014
Author(s)
Charles H. Camp, Young J. Lee, John M. Heddleston, Christopher M. Hartshorn, Angela R. Hight Walker, Jeremy N. Rich, Justin D. Lathia, Marcus T. Cicerone
We have developed a coherent Raman imaging platform using broadband coherent anti-Stokes Raman scattering (BCARS) that provides an unprecedented combination of speed, sensitivity, and spectral breadth. The system utilizes a unique configuration of laser