• PhD (Molecular and Medical Genetics), PostDoc (Neurobiology)
• Assistant Director
• Centre for Applied Genomics
• Hospital for Sick Children
• Toronto, Canada

Abstract:

Many outwardly visible characteristics vary between individual humans. This is also true of many of the molecular components of the body, including the genome. Since 2004, it has been increasingly apparent that there is a great deal of genomic variability from person to person. The vast majority of this variability, up to 1.5% of the nucleotides of the genome, is contained within large-scale copy number variations (CNVs): duplications, deletions, inversions, insertions and other complex rearrangements. This amount of variation dwarfs the approximately three million single nucleotide polymorphisms (SNPs) that differ between any two unrelated genomes. Discovery and detection of CNVs requires an approach integrating many technologies, from cytogenetics through genome-wide microarrays to targeted and high-throughput, whole-genome sequencing. Algorithms for the detection of CNVs from microarray data vary in their applicability, but are well established; those for its detection from sequence data are developing rapidly. In this tutorial, we will examine the background behind genome variability, discuss the technological approaches for its detection, and spend some time understanding how these data are best entered, curated and presented in databases, with particular emphasis on the Database of Genomic Variants.

Requirements:  An undergraduate or equivalent knowledge of genetics and genomics. Familiarity with microarray and high-throughput sequencing technologies will be helpful. Bioinformatics training is not required per se, but may be useful in understanding some of the material presented

Tutorial Outline:

• Introduction and interactive lecture
• Demonstration of the Database of Genomic Variants
• Questions and answers