Genomic Know-How® Webinar Series: Exome Sequencing and Analysis: Considerations for Sample Input, Capture Techniques and Pipelines related to Variant Detection

Life Sciences, Preclinical, Laboratory Technology, Fundamental Research,
  • Wednesday, June 25, 2014

Exome Sequencing has become the leading tool for discovery-based research in pre-clinical settings for DNA aberrations.

It is important to understand how various molecular factors affect the underlying variant representation to ensure proper experimental techniques enhance biomarker discovery.

This webinar will focus on oncology or complicated admixed tissues where very low frequency alleles are under investigation, and will cover topics including:

  • Effects of sample input (intact DNA, FFPE, ultra-low quantity) and recommendations for input
  • Contrasting different target enrichment protocols and describing capture bias
  • Determining the appropriate amount of sequencing coverage needed for your genetic problem
  • Best practices for determining variants and deriving limit of detection


Vic Weigman, PhD, Associate Director of Translational Genomics, EA | Quintiles

Dr. Weigman has been involved in genomic research for the past 13 years, primarily in data interpretation and algorithm development. Through work at UNC Lineberger Cancer Center under Charles Perou, he worked on developing mechanisms for integrating murine and human drug response data and developed new copy number biomarkers for subtypes of breast cancer. While at EA | Quintiles, he helped cultivate the expansion of the next gen sequencing infrastructure to support pre-clinical research into biomarker identification. Currently he directs the Translational Genomics Group at EA | Quintiles, whose goal is continue biomarker discovery for drug development along with constructing assays and informatics tools necessary to support market-ready products used for genomic profiling of cancer.

Message Presenter

Xtalks Partner

EA | Quintiles

EA | Quintiles provides cutting-edge genomic sequencing, gene expression, genotyping, and bioinformatics services to pharmaceutical companies, diagnostic test developers, government agencies, and academic labs. EA | Quintiles conducts projects under clinical-grade quality control and offers bioinformatics expertise and computational infrastructure to process genomic data with consistency and speed.

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