What is Genomics? What have we learned so far through the use of genomic technologies? These lectures provide information on genomic technologies such as Next Generation Sequencing (NGS) – a new, more cost effective and higher throughput sequencing method, and Chromosomal Microarray – a molecular cytogenetic method for the analysis of copy number changes (gains/losses) in the DNA content of a person.
- Advances in Human Genomics – What You Need to Know
- This lecture provides an overview of the available genomic technologies such as whole genome sequencing and chromosomal microarrays, discusses their current clinical applications, future potential and possible limitations.
- Speaker: Dr. Jan Friedman
- This lecture provides an overview of the available genomic technologies such as whole genome sequencing and chromosomal microarrays, discusses their current clinical applications, future potential and possible limitations.
- High Throughput Sequencing
- This lecture explains different DNA sequencing methods, their advantages and limitations and to demonstrate how these genomic technologies can be applied clinically.
- Speakers: Dr. Marco Marra and Dr. Cornelius Boerkoel
- This lecture explains different DNA sequencing methods, their advantages and limitations and to demonstrate how these genomic technologies can be applied clinically.
- High Throughput Genotyping
- This lecture explains Single Nucleotide Polymorphisms (SNPs) including how they are identified, their clinical relevance and their role in pharmacogenetics and adverse drug reactions.
- Speakers: Dr. Colin Ross and Dr. Rod Rassekh
- This lecture explains Single Nucleotide Polymorphisms (SNPs) including how they are identified, their clinical relevance and their role in pharmacogenetics and adverse drug reactions.
- High Resolution Detection of Copy Number Variation
- This lecture provides an overview of methods used to identify biomarkers and copy number variants and how that has improved diagnostic yield for individuals with intellectual disability and its potential for patients with intractable cryptogenic epilepsy.
- Speakers: Dr. Colin Collins and Dr. Michelle Demos
- This lecture provides an overview of methods used to identify biomarkers and copy number variants and how that has improved diagnostic yield for individuals with intellectual disability and its potential for patients with intractable cryptogenic epilepsy.
- Microarrays and Findings of Uncertain Significance
- This lecture provides an overview of how microarrays have been used to diagnose children with intellectual disability, congenital malformations and autism and methods used by scientists to try and interpret “variants of unknown significance”.
- Speaker: Dr. Christine Tyson
- This lecture provides an overview of how microarrays have been used to diagnose children with intellectual disability, congenital malformations and autism and methods used by scientists to try and interpret “variants of unknown significance”.
- Sequencing – from Kilobases to Terabases
- This lecture provides background information on the different sequence technologies, their clinical utility and will use clinical examples to illustrate the power of the technology.
- Speaker: Dr Richard Moore
- This lecture provides background information on the different sequence technologies, their clinical utility and will use clinical examples to illustrate the power of the technology.
- Neurogenomics – Exome Sequencing for Intellectual Disability
- This lecture discusses the strengths and limitations of whole exome sequencing and how it is utilized in diagnosing both mendelian diseases and intellectual disability.
- Speaker: Dr. Jan Friedman
- This lecture discusses the strengths and limitations of whole exome sequencing and how it is utilized in diagnosing both mendelian diseases and intellectual disability.
- Nutrigenomics – How Lifestyle Choices Interact with Genetic Disease
- This lecture discusses the interplay of genes and environment in the development of common diseases and how this information may lead to personalized dietary and lifestyle recommendations.
- Speaker: Dr. Mojgan Yazdanpanah
- This lecture discusses the interplay of genes and environment in the development of common diseases and how this information may lead to personalized dietary and lifestyle recommendations.
- Epigenetic Variation and its Impact on Human Health and Disease
- This lecture provides information on the biological basis of epigenetics, the extent of epigenetic variation in the human genome and how epigenetics is being studied by clinical researchers.
- Speaker: Dr. Michael Kobor
- This lecture provides information on the biological basis of epigenetics, the extent of epigenetic variation in the human genome and how epigenetics is being studied by clinical researchers.
- Genomics: Today and Tomorrow’s Medicine
- This lecture provides background information on different genomic technologies, and their clinical utility.
- Speaker: Dr. Jan Friedman
- This lecture provides background information on different genomic technologies, and their clinical utility.