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The Impact of CNVs on Genetic Diagnostic Testing 

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Comprehending Copy Number Variation


Conference Proceeding CD Now Available
  • Speaker Presentations
  • Poster Abstracts
  • and More!

Keynote Presentations

Stephen Scherer

Copy-Number Variations Associated with Neuropsychiatric Conditions
Stephen W. Scherer, Ph.D., FRSC,Director, The Centre for Applied Genomics, Hospital for Sick Children and University of Toronto

Shelly GunnArray CGH as a Clinical Tool for Breast Cancer: FISHing the Whole Genome for Copy Number Changes 
Shelly Gunn, M.D., Ph.D., Medical Director, Combimatrix Molecular Diagnostics, Inc
.

 

Pre-Conference Short Course
Sunday, March 15, 5:30pm - 8:30pm

A PRACTICAL GUIDE TO FINDING REGIONS OF CHROMOSOMAL COPY NUMBER GAIN OR LOSS

View Agenda 

Instructors: 
Thomas J. Downey, President, Partek, Inc.
Mike Lelivelt, Ph.D., Vice President, Genomics, Partek, Inc.


Complimentary White Papers:

Stable in a Genome of Instability: An interview with Evan Eichler
by: Jan Gitschier
PLoS Genetics
July 2008 | Volume 4 | Issue 7 | e1000124

High-Resolution Copy-Number Variation Map Reflects Human Olfactory Receptor Diversity and Evolution
PLoS Genetics 
November 2008 | Volume 4 | Issue 11 | e1000249

Systematic assessment of copy number variant detection via genome-wide SNP genotyping
Nature Genetics 
October 2008 | Volume 40 | Number 10

All agree that copy number variation (CNV)contributes substantially to human genetic diversity but to what extent? The resulting applications of newly developed whole-genome scanning technologies have catalyzed the appreciation of CNV in the genetic community. The range of these promising new technologies will, for the first time, allow scanning of the entire human genome for CNV in a single experiment. As these genome-wide scanning techniques become more widely used in diagnostic laboratories, the major challenge is how to accurately interpret which submicroscopic genomic imbalances are pathogenic in nature and which are benign.

Attend this event to address key topics:

Technologies to characterize functionally-relevant CNVs at a high resolution

Incorporating these variants within association studies for complex diseases

Determining critical genes and pathways responsible for the development and progression of a particular disease

Developing databases to facilitate integration with existing genetic studies

Clinical diagnostics

 



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