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CONFERENCE SERIES: Biomarkers & Diagnostics Series


Digital Course: Next Generation Sequencing as a Diagnostics Platform


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About this Product: 

Next generation sequencing (NGS) has revolutionized genomics and is now on the verge of being widely adopted for medical sequencing. Until recently, comprehensive genetic testing for genetically heterogeneous diseases was limited by the high cost of traditional (Sanger) sequencing technology. NGS technologies have now completely eliminated this limit such that virtually any gene with a published association to the disease of interest can be tested. Whole exome or whole genome sequencing (WES/WGS) is the ultimate genetic test and many success stories provide a taste of its power. However, while the cost of generating high-quality whole genome sequence data is rapidly dropping, analysis of the enormous number of variants detected is still too complex to implement WGS/WES as a first line genetic test. Targeted NGS-based gene panels are typically an order of magnitude smaller than WES/WGS based testing but follow the same principles. Screening large sets of genes is particularly useful when the clinical diagnosis is uncertain as it eliminates the need for costly and lengthy cascade testing that has dominated genetic testing in the past. Drawbacks are significantly increased numbers of detected variants, which poses novel challenges for post-analytic data analyses. The focus of this short course is on understanding the use of NGS in clinical diagnosis, practical implementation of NGS in clinical laboratories and analysis of large data sets by using bioinformatics tools to parse and interpret data in relation to the clinical phenotype. The concluding presentation is dedicated to quality and standardization of NGS assays.



Product Details:
3 Presentations
156 Slides
Total Run Time: 1:08:03
Digital Download: $345.00
Single Copy: $345.00
Site License: $1380.00

Formats Available:
Digital Download
On Demand 


Agenda at a Glance: 

  • Technical aspects, tremendous power and pitfalls of next-generation sequencing
  • Next generation sequencing for cancer genomic analysis and companion diagnostics
  • Data analysis approaches and challenges in next-generation sequencing
  • New challenges in test interpretation and genetic counseling
  • Applications emphasizing genetic disorders
  • New requirements for informed consent
  • Standardization of NGS assay development

Speaker Biographies: 

 MadhuriHegdeMadhuri Hegde, Ph.D., FACMG, Professor, Human Genetics; Executive Director, Emory Genetics Lab, Emory University School of Medicine

Dr. Madhuri Hegde, Ph.D., FACMG, is an Associate Professor at the Emory University School of Medicine Department of Human Genetics and the Scientific Director of the Emory Genetics Laboratory. Dr. Hegde has been a Member of Clinical Advisory Board at Genome Quest, Inc. since October 20, 2011. The primary focus of Dr. Hegde's clinical work is the development of high-throughput sequencing strategies for rare disorders using sequence capture technologies, robotics, next-generation sequencing, oligonucleotide array platforms, robotics and using predictive analysis tools and biological testing. Her research focuses on functional analysis of sequence variants in disease associated genes, specifically mental retardation and muscular dystrophies, and translating what is learned in the basic research laboratory to clinical practice.

 JenniferMorrissetteJennifer Morrissette, Ph.D., Scientific Director, Clinical Cytogenetics Laboratory; Clinical Director, Center for Personalized Diagnostics (CPD), University of Pennsylvania School of Medicine

Jennifer Morrissette, PhD is the Scientific Director of the Clinical Cytogenetics Laboratory and the Clinical Director of the Center for Personalized Diagnostics (CPD) at the University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA. She is certified in Clinical Molecular Diagnostics and Clinical Cytogenetics through the American Board of Medical Genetics and has been a clinical laboratory director for 9 years. Dr. Morrissette joined the University of Pennsylvania, Department of Pathology as the Scientific Director of Clinical Cancer Cytogenetics in 2010. Previous to the University of Pennsylvania, she was an Assistant Professor at Drexel University and Director of Clinical Cytogenetics and Molecular Genetic Diagnosis at St Christopher’s Hospital for Children. Dr. Morrissette was a founding member of the Center for Personalized Diagnostics, a joint initiative between the Department of Pathology and the Abramson Cancer Center.

 JustinZookJustin Zook, Ph.D., Biomedical Engineer, NIST

Justin is currently working on developing reference materials, reference data, and reference methods for human genome sequencing with the Genome in a Bottle Consortium (www.GenomeInABottle.org). He is developing methods to compare and integrate whole genome DNA sequencing data from multiple platforms and sequencing runs, and thereby measure performance of sequencing methods.

About the Conference: 

The Next Generation Dx Summit showcases advances in personalized medicine through a comprehensive program encompassing companion diagnostics, infectious disease, cancer molecular markers, point-of-care, inherited disorders, cell-free DNA, commercialization, NGS-based assays in the clinical setting and single-cell sequencing. This event has become the meeting place for major players in the expanding arena of diagnostics and highlights key components of their successful adoption in the clinic and advancement to the market.

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