Don't miss our workshop, Monday afternoon, Oct. 20th from 12:30 pm - 2:00 pm
at the ASHG 2014 Annual Meeting in San Diego.


Streamlined Validation Control and Gene Panel Workflows


Located at the Convention Center, Room 11A, Upper Level


Lunch will be provided. Space is limited. Register today!



The resources provided by the National Institute of Standards and Technology (NIST) Genome in a Bottle (GIAB) consortium promise to greatly improve the reliability of genetic assays. With these tools, laboratories can integrate performance measures directly within the workflow of their testing operations.

Nephropathology Associates, Inc. (Nephropath™), a leading U.S. laboratory in the interpretation of kidney biopsies, was motivated to use the NIST materials by the need to demonstrate proficiency in their NGS platform for purposes of CAP/CLIA certification.

As part of a collaborative project between Nephropath and DNASTAR, a new workflow has been added to DNASTAR’s assembly and variant calling software that supports use of the GIAB call sets. The purpose is to validate the efficacy of a procedure from sample prep through sequence analysis. At the end of the workflow, the lab obtains an automatically generated statistical report detailing the assembly sensitivity, specificity, and accuracy.

Additional new workflows have been added to Lasergene in support of streamlined Gene Panel assembly and analysis utilizing NGS data.

In this workshop, Steve Lincoln from the Genome in a Bottle Consortium will be presenting on the importance of high-confidence standard validation control datasets. Nephropath's Marjorie Beggs will then present the use of the NA12878 genome for a validation workflow in a CLIA lab. Finally, DNASTAR's Matthew Keyser will give a live demonstration of DNASTAR's Lasergene software for gene panel workflows.

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"I've been using Lasergene for many years now and I love the simplicity of the program. It is easy to use and easy to teach students to use."
Sang-Jin Suh, Auburn University

"DNASTAR’s technical support is beyond anything I’ve ever seen in a software company. "
Tom Parchman, University of Wyoming

"Lasergene is a fantastic software. It facilitates our researchers from the organization and analysis of samples, until the consolidation of results."
William Ferreira, Alfredo da Matta's Foundation

"DNASTAR's technical support is excellent!"
Jeeba A Kuriakose, University of Texas-Medical Branch

"I particularly like about QSeq the fact that we can import both HTS and prior array data on the same samples to compare differences between the two technologies."
Jay Kolls, LSU Health Sciences Center

"SeqMan Pro is a great application for identifying gene mutations/ polymorphisms. It is very reliable and easy to use."
Sevasti Koukouritaki, Medical College of Wisconsin

"The technical service and support we have received have been outstanding."
Dr. Michael Carleton, Targeted Growth, Inc.

"I have used the Lasergene package for years, and it is by far the best in the field. I love using SeqBuilder to make my plasmids organized and to plan my new cloning."
Mei Wu, University of Washington