Genomics

Marco Marra, Ph.D.Director,

British Columbia Cancer Agency

Genome Sciences Centre

Overview

Rationale and Background

Cells and biomolecules

Special Challenges for Genomics, Bioinformatics,Proteomics and related technologies

Rationale

There are a staggering number of cells in the human body.

Most of these cells contain genetic material; all of the cells contain protein and other chemical entities.

The information encoded in the genetic material is somehow “understood” and interpreted by cells.

The correct cellular interpretation is essential for normal development and health of the organism.

Disease can result due to complex interactions between largely unidentified genes and poorly understood environmental factors.

RationaleDevelopment is complex and requires the (poorly understood) interaction between many genes and gene products (RNA and protein).

Development requires that the correct genes must be turned on and off in the correct tissues at the correct time. This is known as “regulation” of gene Expression. Mis-regulation of gene expression canproduce disease.

To identify the many unknown genes involved in Development and disease, tools capable of “high throughput” and applicable at “large scale” are required.

These are the tools of Genomics.

What is genomics?

The term "genomics" was coined by mouse geneticist Tom Roderick to

describe an approach to the study of DNA at the level of chromosomes,

entire genomes, or large clusters of genes. The purpose of the term was

to distinguish it from more traditional genetic approaches that focused on

one gene or a family of functionally or structurally related genes or sequences.

In addition to this scientific concept, genomics also implied large scale and a

"whiz-bang" high tech approach to studying DNA structure. Implicitly,

genomics implied creating and using large databases, extensive use of

laboratory automation, and generally a more "capital intensive biology,"

than was the norm in the mid-1980s.

Genome BC sponsored technologies

•Bioinformatics (S. Jones, BCCA GSC)

•DNA sequencing (M. Marra, BCCA GSC; B. Koop, U.Victoria)

•BAC fingerprint mapping (J. Schein, BCCA GSC)

•Model organism genetics (D. Moerman, UBC)

•Genotyping (A. Brooks-Wilson & M. Marra, BCCA GSC)

•cDNA Microarrays (C. Nelson, JBRC & VGH)

•Proteomics (R. Olafson, U.Victoria)

•Technology development (A. Marziali, UBC)

Life begins with the fusion of two cells

What is “the Genome?”

DNA

Humans are made up of ~100 trillion cells.Each cell contains ~2 meters of DNA.

Each human contains 200 trillion meters of DNA.This equals 200 billion kilometers of DNA.

The distance from Earth to Sun is 150 million kilometers.

The amount of DNA in every one of us is sufficient tostretch between the Earth and the Sun ~1,300 times.

The Central Dogma of Molecular Genetics

DNA RNA Protein

The Central Dogma of Molecular Genetics

DNA(a gene)

RNARNARNARNARNA

Protein 1Protein 2

Protein 1Protein 2

Protein 1Protein 2

Protein 1Protein 2

Protein 1Protein 2

Cell, nucleus, chromosome and DNA

Gene Structure

mRNA - The intermediate between DNA and protein

Proteins, theengines of the cell, have complicated 3-D structures

GGAGATTCTGGGCCACTTTGGTTCCCCATGAGCCAAGACGGCACTTCTAATTTGCATTCCCTACCGGAGTCCCTGTCTGTAGCCAGCCTGGCTTTCAGCTGGTGCCCAAAGTGACAAATGTATCTGCAATGACAAAGGTACCCTGGAAGGGCTCGCCCTCTGCGGAATTTCAGTTCATGCAGGCCTTGGTGCTTCCACATCTGTCCAAGGGCCTTTCAAATGTGACTTTTAACTCTGTGGATTGATTTGCCCGGTTGTCACATTCTGAGCAGCCACAACCTACTGCATCCCATGTAGAAGTGGAAGTGACCTGATTTTTTCCTGCTTTTCAAGGCTGTATGTTTACATTTGCCTCCAATCATTCCTATGGGAATTCCTTGGGAGTCTAACTTGGAGATTTTGTTTCTTCTGCCTTTGCTCCTGGGGGCTTAATCACTTCTGTGCCTCTGGTTATCTGTGGCACATTTGTATTTGTCATTAGTCAACCGGAGACTCGGGGTCTGAGTGGAGGGTATGTCCCCCTCCAGTGATGGTTTCTGTTGGCTTCCCAGGGTGAGGATGACTCATGACCACTTGCAAGTGGTTTTTGTGTCTGGGGTTTATGATCACACAGTCATACACGTTCTAACTCCAGACTGACTGTTGAGAAAGCCTCTGGGTAAGGGAATTCCTGGGAAACACACTGTTTTCATGCATCCTCTGGAAGATGAGGCCTGAAGTTACCAGGGTCTCTGTTTGCTGATGCTGATGATCCACATTTTCTAGCCCACTCTGCTTCTCTGACACCTTTAGTCTTGAGGATCCATGNTCTGTGAAGGAATCCAAGCTCTCATTTCGCACTCACCTTGGCCCTGGCTCTGTCTCCAGGACCTCTTCTACTACAAAATCCTAAAGCTCTGGGAGCTGGGTGTCAACCTGTGCCCGAGGAAATCATACAGTTACTGTGGACTTTCCAGTTTGCTGTCTTCTAGTATTCCATTGTAGCTCTTGGGTATTTTCCCATCCACCCCAAGATCCAGCTGGAAATCAGTGAACACACTTGATGGGAGTTTTCCTGCATGTGCTCTGGGCATTGACAGTAGAAGGGTGTTCAGAATGTCTGCTGTGCCCTCATGGAGGAAGAGNGCTCAGTGTACATGCTCTGGGTCAGTAGGTGCCCTTGAGCCCAGCTTTGGGAGCAATGTTGGATGAGTGAAGGAGGGATCCAGGGCAAAGCAGGCACGACAGAGTGGAGACGGCGCTGCTGGCTCTCAGGGGAATGGGCATGGAGTGGGTAGGAGATCCACCTAAGGAGGCTGGCTGGCTGGACGAGTCAGGAGCCCCTTCCAAGGGTGGACACTGACAGGCCCCCAGTCTTGGTCTCCTGCATGCCAGAGGTACCAGCCCATCTTTTTTCCTAAACTTGATGACCTAGGGCTAGGGGCATGTTGAATCTCAGCCTCGCCCACTGGCGCTGGACTTGGTACACAGGGTGGGGCAAAGTGGGTACTGGATCCTGATCATCCCTATCCCTGGGGTGTGGCTTCTTGCTGCACAGTCAGCTTCTAGTTCTGTAGCCCCAGCTGCTCCTGCGGTGGAGGGAGCTACACATCAGGCTCTGACCCCCTCCAGGTGGGGCCTTCGCGTGAGGGGAGTCAGCACGCATCAGCAGCTGGGCCCAGGGAGTTGCCCCACTGAGCACTGCGGGCTGACCTGCTCCCAACCAGGGAGATGGAGCTTCCCCCTTGAGTCGGGCTGCTGAAGGGGGGTAGGGGATGGAAACAGTGCGTTTGCAGGAGTAAGGGTGCAGTTGGGTCCCTGCGAGAAAATGTCTCAGTTGTGGCAACTGATTGGTGACCTGGGGGGCGTTTCTGAGCCCACAGTGCTGGCATCAGGACTCAGGTGTGAGGTGCCCCAGACCCTCCCCTTGCCAGTAATTAGCTGATGGCTCGGTGATGCCCAGGGTGAAGGAAGACTTGATTTTGGGAGGGGAGTTCTCTCGTAATGACACTGAGGATGCCTTCAAGTTGGGCTTCTGGCATGTTCTGCCCTCGCTCCCCTTCTGTAGTCACCTTGGCCCTCGTGTTGCTGAGCTGTGTGTGGGAGCGGGAAGCGCGTCAGTGGGCGGAGGGAGCGGGAAGCGCGTCAGTGGGCGGAGTATTTGAGAACATTTCACAAGCCGCTGTTGAGGTTCAGAATCAACCAGCAGATACAGAAACATATTTCGGAGCGTGGGGACCCTTGGGTGAGCTGCCACATGAAGCAGCCCCAGGACCTCCCTGGCTCAAGGAGTGACAGCGAGTTTGTCTGAGGTGAGGGCACAGGCCTGGCGAAGCCTCGTGTGTGGGTGAGACCTGCCCGACCCCAGTGCCTTACCCGAGGAGCTACTGGCCCAGTGGGGGAGGCATTCAGGTGGGCAGAGTCAGGGAGACTCATGAGGCCGTTGAGGCCAGGGGCATAGAGCTGGCCAAGGAGCCATGGCTCACTAACGTGTTGTATGGGGCTCCTTCCCTTCAGGTCCAGGCTCCTGCGTGAAGTGATGCTCCTCTTTGCCTTACTCCTAGCCATGGAGCTCCCATTGGTGGCAGCCAGTGCCACCATCGCGCTCAGTGTAAGTATCATTCCCTCTCACTGTCCTGGAGAGGACGAGAATTCCACCTGGAGATTCTGGGCCACTTTGGTTCCCCATGAGCCAAGACGGCACTTCTAATTTGCATTCCCTACCGGAGTCCCTGTCTGTAGCCAGCCTGGCTTTCAGCTGGTGCCCAAAGTGACAAATGTATCTGCAATGACAAAGGTACCCTGGAAGGGCTCGCCCTCTGCGGAATTTCAGTTCATGCAGGCCTTGGTGCTTCCACATCTGTCCAAGGGCCTTTCAAATGTGACTTTTAACTCTGTGGATTGATTTGCCCGGTTGTCACATTCTGAGCAGCCACAACCTACTGCATCCCATGTAGAAGTGGAAGTGACCTGATTTTTTCCTGCTTTTCAAGGCTGTATGTTTACATTTGCCTCCAATCATTCCTATGGGAATTCCTTGGGAGTCTAACTTGGAGATTTTGTTTCTTCTGCCTTTGCTCCTGGGGGCTTAATCACTTCTGTGCCTCTGGTTATCTGTGGCACATTTGTATTTGTCATTAGTCAACCGGAGACTCGGGGTCTGAGTGGAGGGTATGTCCCCCTCCAGTGATGGTTTCTGTTGGCTTCCCAGGGTGAGGATGACTCATGACCACTTGCAAGTGGTTTTTGTGTCTGGGGTTTATGATCACACAGTCATACACGTTCTAACTCCAGACTGACTGTTGAGAAAGCCTCTGGGTAAGGGAATTCCTGGGAAACACACTGTTTTCATGCATCCTCTGGAAGATGAGGCCTGAAGTTACCAGGGTCTCTGTTTGCTGATGCTGATGATCCACATTTTCTAGCCCACTCTGCTTCTCTGACACCTTTAGTCTTGAGGATCCATGNTCTGTGAAGGAATCCAAGCTCTCATTTCGCACTCACCTTGGCCCTGGCTCTGTCTCCAGGACCTCTTCTACTACAAAATCCTAAAGCTCTGGGAGCTGGGTGTCAACCTGTGCCCGAGGAAATCATACAGTTACTGTGGACTTTCCAGTTTGCTGTCTTCTAGTATTCCATTGTAGCTCTTGGGTATTTTCCCATCCACCCCAAGATCCAGCTGGAAATCAGTGAACACACTTGATGGGAGTTTTCCTGCATGTGCTCTGGGCATTGACAGTAGAAGGGTGTTCAGAATGTCTGCTGTGCCCTCATGGAGGAAGAGNGCTCAGTGTACATGCTCTGGGTCAGTAGGTGCCCTTGAGCCCAGCTTTGGGAGCAATGTTGGATGAGTGAAGGAGGGATCCAGGGCAAAGCAGGCACGACAGAGTGGAGACGGCGCTGCTGGCTCTCAGGGGAATGGGCATGGAGTGGGTAGGAGATCCACCTAAGGAGGCTGGCTGGCTGGACGAGTCAGGAGCCCCTTCCAAGGGTGGACACTGACAGGCCCCCAGTCTTGGTCTCCTGCATGCCAGAGGTACCAGCCCATCTTTTTTCCTAAACTTGATGACCTAGGGCTAGGGGCATGTTGAATCTCAGCCTCGCCCACTGGCGCTGGACTTGGTACACAGGGTGGGGCAAAGTGGGTACTGGATCCTGATCATCCCTATCCCTGGGGTGTGGCTTCTTGCTGCACAGTCAGCTTCTAGTTCTGTAGCCCCAGCTGCTCCTGCGGTGGAGGGAGCTACACATCAGGCTCTGACCCCCTCCAGGTGGGGCCTTCGCGTGAGGGGAGTCAGCACGCATCAGCAGCTGGGCCCAGGGAGTTGCCCCACTGAGCACTGCGGGCTGACCTGCTCCCAACCAGGGAGATGGAGCTTCCCCCTTGAGTCGGGCTGCTGAAGGGGGGTAGGGGATGGAAACAGTGCGTTTGCAGGAGTAAGGGTGCAGTTGGGTCCCTGCGAGAAAATGTCTCAGTTGTGGCAACTGATTGGTGACCTGGGGGGCGTTTCTGAGCCCACAGTGCTGGCATCAGGACTCAGGTGTGAGGTGCCCCAGACCCTCCCCTTGCCAGTAATTAGCTGATGGCTCGGTGATGCCCAGGGTGAAGGAAGACTTGATTTTGGGAGGGGAGTTCTCTCGTAATGACACTGAGGATGCCTTCAAGTTGGGCTTCTGGCATGTTCTGCCCTCGCTCCCCTTCTGTAGTCACCTTGGCCCTCGTGTTGCTGAGCTGTGTGTGGGAGCGGGAAGCGCGTCAGTGGGCGGAGGGAGCGGGAAGCGCGTCAGTGGGCGGAGTATTTGAGAACATTTCACAAGCCGCTGTTGAGGTTCAGAATCAACCAGCAGATACAGAAACATATTTCGGAGCGTGGGGACCCTTGGGTGAGCTGCCACATGAAGCAGCCCCAGGACCTCCCTGGCTCAAGGAGTGACAGCGAGTTTGTCTGAGGTGAGGGCACAGGCCTGGCGAAGCCTCGTGTGTGGGTGAGACCTGCCCGACCCCAGTGCCTTACCCGAGGAGCTACTGGCCCAGTGGGGGAGGCATTCAGGTGGGCAGAGTCAGGGAGACTCATGAGGCCGTTGAGGCCAGGGGCATAGAGCTGGCCAAGGAGCCATGGCTCACTAACGTGTTGTATGGGGCTCCTTCCCTTCAGGTCCAGGCTCCTGCGTGAAGTGATGCTCCTCTTTGCCTTACTCCTAGCCATGGAGCTCCCATTGGTGGCAGCCAGTGCCACCATCGCGCTCAGTGTAAGTATCATTCCCTCTCACTGTCCTGGAGAGGACGAGAATTCCACCTGCCAGTGCCTTACCCGAGGAGCTACTGGCCCAGTGGGGGAGGCATTCAGGTGGGCAGAGTCAGGGAGACTCATGAGGCCGTTGAGGCCAGGGGCATAGAGCTGGCCAAGGAGCCATGGCTCACTAACGTGTTGTATGGGGCTCCTTCCCTTCAGGTCCAGGCTCCTGCGTGAAGTGATGCTCCTCTTTGCCTTACTCCTAGCCATGGAGCTCCCATTGGTGGCAGCCAGTGCCACCATCGCGCTCAGTGTAAGTATCATTCCCTCTCACTGTCCTGGAGAGGACGAGAATTCCACCTGGAGATTCTGGGCCACTTTGGTTCCCCATGAGCCAAGACGGCACTTCTAATTTGCATTCCCTACCGGAGTCCCTGTCTGTAGCCAGCCTGGCTTTCAGCTGGTGCCCAAAGTGACAAATGTATCTGCAATGACAAAGGTACCCTGGAAGGGCTCGCCCTCTGCGGAATTTCAGTTCATGCAGGCCTTGGTGCTTCCACATCTGTCCAAGGGCCTTTCAAATGTGACTTTTAACTCTGTGGATTGATTTGCCCGGTTGTCACATTCTGAGCAGCCACAACCTACTGCATCCCATGTAGAAGTGGAAGTGACCTGATTTTTTCCTGCTTTTCAAGGCTGTATGTTTACATTTGCCTCCAATCATTCCTATGGGAATTCCTTGGGAGTCTAACTTGGAGATTTTGTTTCTTCTGCCTTTGCTCCTGGGGGCTTAATCACTTCTGTGCCTCTGGTTATCTGTGGCACATTTGTATTTGTCATTAGTCAACCGGAGACTCGGGGTCTGAGTGGAGGGTATGTCCCCCTCCAGTGATGGTTTCTGTTGGCTTCCCAGGGTGAGGATGACTCATGACCACTTGCAAGTGGTTTTTGTGTCTGGGGTTTATGATCACACAGTCATACACGTTCTAACTCCAGACTGACTGTTGAGAAAGCCTCTGGGTAAGGGAATTCCTGGGAAACACACTGTTTTCATGCATCCTCTGGAAGATGAGGCCTGAAGTTACCAGGGTCTCTGTTTGCTGATGCTGATGATCCACATTTTCTAGCCCACTCTGCTTCTCTGACACCTTTAGTCTTGAGGATCCATGNTCTGTGAAGGAATCCAAGCTCTCATTTCGCACTCACCTTGGCCCTGGCTCTGTCTCCAGGACCTCTTCTACTACAAAATCCTAAAGCTCTGGGAGCTGGGTGTCAACCTGTGCCCGAGGAAATCATACAGTTACTGTGGACTTTCCAGTTTGCTGTCTTCTAGTATTCCATTGTAGCTCTTGGGTATTTTCCCATCCACCCCAAGATCCAGCTGGAAATCAGTGAACACACTTGATGGGAGTTTTCCTGCATGTGCTCTGGGCATTGACAGTAGAAGGGTGTTCAGAATGTCTGCTGTGCCCTCATGGAGGAAGAGNGCTCAGTGTACATGCTCTGGGTCAGTAGGTGCCCTTGAGCCCAGCTTTGGGAGCAATGTTGGATGAGTGAAGGAGGGATCCAGGGCAAAGCAGGCACGACAGAGTGGAGACGGCGCTGCTGGCTCTCAGGGGAATGGGCATGGAGTGGGTAGGAGATCCACCTAAGGAGGCTGGCTGGCTGGACGAGTCAGGAGCCCCTTCCAAGGGTGGACACTGACAGGCCCCCAGTCTTGGTCTCCTGCATGCCAGAGGTACCAGCCCATCTTTTTTCCTAAACTTGATGACCTAGGGCTAGGGGCATGTTGAAGTGACTTTTAACTCTGTGGATTGATTTGCCCGGTTGTCACATTCTGAGCAGCCACAACCTACTGCATCCCATGTAGAAGTGGAAGTGACCTGATTTTTTCCTGCTTTTCAAGGCTGTATGTTTACATTTGCCTCCAATCATTCCTATGGGAATTCCTTGGGAGTCTAACTTGGAGATTTTGTTTCTTCTGCCTTTGCTCCTGGGGGCTTAATCACTTCTGTGCCTCTGGTTATCTGTGGCACATTTGTATTTGTCATTAGTCAACCGGAGACTCGGGGTCTGAGTGGAGGGTATGTCCCCCTCCAGTGATGGTTTCTGTTGGCTTCCCAGGGTGAGGATGACTCATGACCACTTGCAAGTGGTTTTTGTGTCTGGGGTTTATGATCACACAGTCATACACGTTCTAACTCCAGACTGACTGTTGAGAAAGCCTCTGGGTAAGGGAATTCCTGGGAAACACACTGTTTTCATGCATCCTCTGGAAGATGAGGCCTGAAGTTACCAGGGTCTCTGTTTGCTGATGCTGATGATCCACATTTTCTAGCCCACTCTGCTTCTCTGACACCTTTAGTCTTGAGGATCCATGNTCTGTGAAGGAATCCAAGCTCTCATTTCGCACTCACCTTGGCCCTGGCTCTGTCTCCAGGACCTCTTCTACTACAAAATCCTAAAGCTCTGGGAGCTGGGTGTCAACCTGTGCCCGAGGAAATCATACAGTTACTGTGGACTTTCCAGTTTGCTGTCTTCTAGTATTCCATTGTAGCTCTTGGGTATTTTCCCATCCACCCCAAGATCCAGCTGGAAATCAGTGAACACACTTGATGGGAGTTTTCCTGCATGTGCTCTGGGCATTGACAG

DNA Sequence

Exons and introns

GGAGATTCTGGGCCACTTTGGTTCCCCATGAGCCAAGACGGCACTTCTAATTTGCATTCCCTACCGGAGTCCCTGTCTGTAGCCAGCCTGGCTTTCAGCTGGTGCCCAAAGTGACAAATGTATCTGCAATGACAAAGGTACCCTGGAAGGGCTCGCCCTCTGCGGAATTTCAGTTCATGCAGGCCTTGGTGCTTCCACATCTGTCCAAGGGCCTTTCAAATGTGACTTTTAACTCTGTGGATTGATTTGCCCGGTTGTCACATTCTGAGCAGCCACAACCTACTGCATCCCATGTAGAAGTGGAAGTGACCTGATTTTTTCCTGCTTTTCAAGGCTGTATGTTTACATTTGCCTCCAATCATTCCTATGGGAATTCCTTGGGAGTCTAACTTGGAGATTTTGTTTCTTCTGCCTTTGCTCCTGGGGGCTTAATCACTTCTGTGCCTCTGGTTATCTGTGGCACATTTGTATTTGTCATTAGTCAACCGGAGACTCGGGGTCTGAGTGGAGGGTATGTCCCCCTCCAGTGATGGTTTCTGTTGGCTTCCCAGGGTGAGGATGACTCATGACCACTTGCAAGTGGTTTTTGTGTCTGGGGTTTATGATCACACAGTCATACACGTTCTAACTCCAGACTGACTGTTGAGAAAGCCTCTGGGTAAGGGAATTCCTGGGAAACACACTGTTTTCATGCATCCTCTGGAAGATGAGGCCTGAAGTTACCAGGGTCTCTGTTTGCTGATGCTGATGATCCACATTTTCTAGCCCACTCTGCTTCTCTGACACCTTTAGTCTTGAGGATCCATGNTCTGTGAAGGAATCCAAGCTCTCATTTCGCACTCACCTTGGCCCTGGCTCTGTCTCCAGGACCTCTTCTACTACAAAATCCTAAAGCTCTGGGAGCTGGGTGTCAACCTGTGCCCGAGGAAATCATACAGTTACTGTGGACTTTCCAGTTTGCTGTCTTCTAGTATTCCATTGTAGCTCTTGGGTATTTTCCCATCCACCCCAAGATCCAGCTGGAAATCAGTGAACACACTTGATGGGAGTTTTCCTGCATGTGCTCTGGGCATTGACAGTAGAAGGGTGTTCAGAATGTCTGCTGTGCCCTCATGGAGGAAGAGNGCTCAGTGTACATGCTCTGGGTCAGTAGGTGCCCTTGAGCCCAGCTTTGGGAGCAATGTTGGATGAGTGAAGGAGGGATCCAGGGCAAAGCAGGCACGACAGAGTGGAGACGGCGCTGCTGGCTCTCAGGGGAATGGGCATGGAGTGGGTAGGAGATCCACCTAAGGAGGCTGGCTGGCTGGACGAGTCAGGAGCCCCTTCCAAGGGTGGACACTGACAGGCCCCCAGTCTTGGTCTCCTGCATGCCAGAGGTACCAGCCCATCTTTTTTCCTAAACTTGATGACCTAGGGCTAGGGGCATGTTGAATCTCAGCCTCGCCCACTGGCGCTGGACTTGGTACACAGGGTGGGGCAAAGTGGGTACTGGATCCTGATCATCCCTATCCCTGGGGTGTGGCTTCTTGCTGCACAGTCAGCTTCTAGTTCTGTAGCCCCAGCTGCTCCTGCGGTGGAGGGAGCTACACATCAGGCTCTGACCCCCTCCAGGTGGGGCCTTCGCGTGAGGGGAGTCAGCACGCATCAGCAGCTGGGCCCAGGGAGTTGCCCCACTGAGCACTGCGGGCTGACCTGCTCCCAACCAGGGAGATGGAGCTTCCCCCTTGAGTCGGGCTGCTGAAGGGGGGTAGGGGATGGAAACAGTGCGTTTGCAGGAGTAAGGGTGCAGTTGGGTCCCTGCGAGAAAATGTCTCAGTTGTGGCAACTGATTGGTGACCTGGGGGGCGTTTCTGAGCCCACAGTGCTGGCATCAGGACTCAGGTGTGAGGTGCCCCAGACCCTCCCCTTGCCAGTAATTAGCTGATGGCTCGGTGATGCCCAGGGTGAAGGAAGACTTGATTTTGGGAGGGGAGTTCTCTCGTAATGACACTGAGGATGCCTTCAAGTTGGGCTTCTGGCATGTTCTGCCCTCGCTCCCCTTCTGTAGTCACCTTGGCCCTCGTGTTGCTGAGCTGTGTGTGGGAGCGGGAAGCGCGTCAGTGGGCGGAGGGAGCGGGAAGCGCGTCAGTGGGCGGAGTATTTGAGAACATTTCACAAGCCGCTGTTGAGGTTCAGAATCAACCAGCAGATACAGAAACATATTTCGGAGCGTGGGGACCCTTGGGTGAGCTGCCACATGAAGCAGCCCCAGGACCTCCCTGGCTCAAGGAGTGACAGCGAGTTTGTCTGAGGTGAGGGCACAGGCCTGGCGAAGCCTCGTGTGTGGGTGAGACCTGCCCGACCCCAGTGCCTTACCCGAGGAGCTACTGGCCCAGTGGGGGAGGCATTCAGGTGGGCAGAGTCAGGGAGACTCATGAGGCCGTTGAGGCCAGGGGCATAGAGCTGGCCAAGGAGCCATGGCTCACTAACGTGTTGTATGGGGCTCCTTCCCTTCAGGTCCAGGCTCCTGCGTGAAGTGATGCTCCTCTTTGCCTTACTCCTAGCCATGGAGCTCCCATTGGTGGCAGCCAGTGCCACCATCGCGCTCAGTGTAAGTATCATTCCCTCTCACTGTCCTGGAGAGGACGAGAATTCCACCTGGAGATTCTGGGCCACTTTGGTTCCCCATGAGCCAAGACGGCACTTCTAATTTGCATTCCCTACCGGAGTCCCTGTCTGTAGCCAGCCTGGCTTTCAGCTGGTGCCCAAAGTGACAAATGTATCTGCAATGACAAAGGTACCCTGGAAGGGCTCGCCCTCTGCGGAATTTCAGTTCATGCAGGCCTTGGTGCTTCCACATCTGTCCAAGGGCCTTTCAAATGTGACTTTTAACTCTGTGGATTGATTTGCCCGGTTGTCACATTCTGAGCAGCCACAACCTACTGCATCCCATGTAGAAGTGGAAGTGACCTGATTTTTTCCTGCTTTTCAAGGCTGTATGTTTACATTTGCCTCCAATCATTCCTATGGGAATTCCTTGGGAGTCTAACTTGGAGATTTTGTTTCTTCTGCCTTTGCTCCTGGGGGCTTAATCACTTCTGTGCCTCTGGTTATCTGTGGCACATTTGTATTTGTCATTAGTCAACCGGAGACTCGGGGTCTGAGTGGAGGGTATGTCCCCCTCCAGTGATGGTTTCTGTTGGCTTCCCAGGGTGAGGATGACTCATGACCACTTGCAAGTGGTTTTTGTGTCTGGGGTTTATGATCACACAGTCATACACGTTCTAACTCCAGACTGACTGTTGAGAAAGCCTCTGGGTAAGGGAATTCCTGGGAAACACACTGTTTTCATGCATCCTCTGGAAGATGAGGCCTGAAGTTACCAGGGTCTCTGTTTGCTGATGCTGATGATCCACATTTTCTAGCCCACTCTGCTTCTCTGACACCTTTAGTCTTGAGGATCCATGNTCTGTGAAGGAATCCAAGCTCTCATTTCGCACTCACCTTGGCCCTGGCTCTGTCTCCAGGACCTCTTCTACTACAAAATCCTAAAGCTCTGGGAGCTGGGTGTCAACCTGTGCCCGAGGAAATCATACAGTTACTGTGGACTTTCCAGTTTGCTGTCTTCTAGTATTCCATTGTAGCTCTTGGGTATTTTCCCATCCACCCCAAGATCCAGCTGGAAATCAGTGAACACACTTGATGGGAGTTTTCCTGCATGTGCTCTGGGCATTGACAGTAGAAGGGTGTTCAGAATGTCTGCTGTGCCCTCATGGAGGAAGAGNGCTCAGTGTACATGCTCTGGGTCAGTAGGTGCCCTTGAGCCCAGCTTTGGGAGCAATGTTGGATGAGTGAAGGAGGGATCCAGGGCAAAGCAGGCACGACAGAGTGGAGACGGCGCTGCTGGCTCTCAGGGGAATGGGCATGGAGTGGGTAGGAGATCCACCTAAGGAGGCTGGCTGGCTGGACGAGTCAGGAGCCCCTTCCAAGGGTGGACACTGACAGGCCCCCAGTCTTGGTCTCCTGCATGCCAGAGGTACCAGCCCATCTTTTTTCCTAAACTTGATGACCTAGGGCTAGGGGCATGTTGAATCTCAGCCTCGCCCACTGGCGCTGGACTTGGTACACAGGGTGGGGCAAAGTGGGTACTGGATCCTGATCATCCCTATCCCTGGGGTGTGGCTTCTTGCTGCACAGTCAGCTTCTAGTTCTGTAGCCCCAGCTGCTCCTGCGGTGGAGGGAGCTACACATCAGGCTCTGACCCCCTCCAGGTGGGGCCTTCGCGTGAGGGGAGTCAGCACGCATCAGCAGCTGGGCCCAGGGAGTTGCCCCACTGAGCACTGCGGGCTGACCTGCTCCCAACCAGGGAGATGGAGCTTCCCCCTTGAGTCGGGCTGCTGAAGGGGGGTAGGGGATGGAAACAGTGCGTTTGCAGGAGTAAGGGTGCAGTTGGGTCCCTGCGAGAAAATGTCTCAGTTGTGGCAACTGATTGGTGACCTGGGGGGCGTTTCTGAGCCCACAGTGCTGGCATCAGGACTCAGGTGTGAGGTGCCCCAGACCCTCCCCTTGCCAGTAATTAGCTGATGGCTCGGTGATGCCCAGGGTGAAGGAAGACTTGATTTTGGGAGGGGAGTTCTCTCGTAATGACACTGAGGATGCCTTCAAGTTGGGCTTCTGGCATGTTCTGCCCTCGCTCCCCTTCTGTAGTCACCTTGGCCCTCGTGTTGCTGAGCTGTGTGTGGGAGCGGGAAGCGCGTCAGTGGGCGGAGGGAGCGGGAAGCGCGTCAGTGGGCGGAGTATTTGAGAACATTTCACAAGCCGCTGTTGAGGTTCAGAATCAACCAGCAGATACAGAAACATATTTCGGAGCGTGGGGACCCTTGGGTGAGCTGCCACATGAAGCAGCCCCAGGACCTCCCTGGCTCAAGGAGTGACAGCGAGTTTGTCTGAGGTGAGGGCACAGGCCTGGCGAAGCCTCGTGTGTGGGTGAGACCTGCCCGACCCCAGTGCCTTACCCGAGGAGCTACTGGCCCAGTGGGGGAGGCATTCAGGTGGGCAGAGTCAGGGAGACTCATGAGGCCGTTGAGGCCAGGGGCATAGAGCTGGCCAAGGAGCCATGGCTCACTAACGTGTTGTATGGGGCTCCTTCCCTTCAGGTCCAGGCTCCTGCGTGAAGTGATGCTCCTCTTTGCCTTACTCCTAGCCATGGAGCTCCCATTGGTGGCAGCCAGTGCCACCATCGCGCTCAGTGTAAGTATCATTCCCTCTCACTGTCCTGGAGAGGACGAGAATTCCACCTGCCAGTGCCTTACCCGAGGAGCTACTGGCCCAGTGGGGGAGGCATTCAGGTGGGCAGAGTCAGGGAGACTCATGAGGCCGTTGAGGCCAGGGGCATAGAGCTGGCCAAGGAGCCATGGCTCACTAACGTGTTGTATGGGGCTCCTTCCCTTCAGGTCCAGGCTCCTGCGTGAAGTGATGCTCCTCTTTGCCTTACTCCTAGCCATGGAGCTCCCATTGGTGGCAGCCAGTGCCACCATCGCGCTCAGTGTAAGTATCATTCCCTCTCACTGTCCTGGAGAGGACGAGAATTCCACCTGGAGATTCTGGGCCACTTTGGTTCCCCATGAGCCAAGACGGCACTTCTAATTTGCATTCCCTACCGGAGTCCCTGTCTGTAGCCAGCCTGGCTTTCAGCTGGTGCCCAAAGTGACAAATGTATCTGCAATGACAAAGGTACCCTGGAAGGGCTCGCCCTCTGCGGAATTTCAGTTCATGCAGGCCTTGGTGCTTCCACATCTGTCCAAGGGCCTTTCAAATGTGACTTTTAACTCTGTGGATTGATTTGCCCGGTTGTCACATTCTGAGCAGCCACAACCTACTGCATCCCATGTAGAAGTGGAAGTGACCTGATTTTTTCCTGCTTTTCAAGGCTGTATGTTTACATTTGCCTCCAATCATTCCTATGGGAATTCCTTGGGAGTCTAACTTGGAGATTTTGTTTCTTCTGCCTTTGCTCCTGGGGGCTTAATCACTTCTGTGCCTCTGGTTATCTGTGGCACATTTGTATTTGTCATTAGTCAACCGGAGACTCGGGGTCTGAGTGGAGGGTATGTCCCCCTCCAGTGATGGTTTCTGTTGGCTTCCCAGGGTGAGGATGACTCATGACCACTTGCAAGTGGTTTTTGTGTCTGGGGTTTATGATCACACAGTCATACACGTTCTAACTCCAGACTGACTGTTGAGAAAGCCTCTGGGTAAGGGAATTCCTGGGAAACACACTGTTTTCATGCATCCTCTGGAAGATGAGGCCTGAAGTTACCAGGGTCTCTGTTTGCTGATGCTGATGATCCACATTTTCTAGCCCACTCTGCTTCTCTGACACCTTTAGTCTTGAGGATCCATGNTCTGTGAAGGAATCCAAGCTCTCATTTCGCACTCACCTTGGCCCTGGCTCTGTCTCCAGGACCTCTTCTACTACAAAATCCTAAAGCTCTGGGAGCTGGGTGTCAACCTGTGCCCGAGGAAATCATACAGTTACTGTGGACTTTCCAGTTTGCTGTCTTCTAGTATTCCATTGTAGCTCTTGGGTATTTTCCCATCCACCCCAAGATCCAGCTGGAAATCAGTGAACACACTTGATGGGAGTTTTCCTGCATGTGCTCTGGGCATTGACAGTAGAAGGGTGTTCAGAATGTCTGCTGTGCCCTCATGGAGGAAGAGNGCTCAGTGTACATGCTCTGGGTCAGTAGGTGCCCTTGAGCCCAGCTTTGGGAGCAATGTTGGATGAGTGAAGGAGGGATCCAGGGCAAAGCAGGCACGACAGAGTGGAGACGGCGCTGCTGGCTCTCAGGGGAATGGGCATGGAGTGGGTAGGAGATCCACCTAAGGAGGCTGGCTGGCTGGACGAGTCAGGAGCCCCTTCCAAGGGTGGACACTGACAGGCCCCCAGTCTTGGTCTCCTGCATGCCAGAGGTACCAGCCCATCTTTTTTCCTAAACTTGATGACCTAGGGCTAGGGGCATGTTGAAGTGACTTTTAACTCTGTGGATTGATTTGCCCGGTTGTCACATTCTGAGCAGCCACAACCTACTGCATCCCATGTAGAAGTGGAAGTGACCTGATTTTTTCCTGCTTTTCAAGGCTGTATGTTTACATTTGCCTCCAATCATTCCTATGGGAATTCCTTGGGAGTCTAACTTGGAGATTTTGTTTCTTCTGCCTTTGCTCCTGGGGGCTTAATCACTTCTGTGCCTCTGGTTATCTGTGGCACATTTGTATTTGTCATTAGTCAACCGGAGACTCGGGGTCTGAGTGGAGGGTATGTCCCCCTCCAGTGATGGTTTCTGTTGGCTTCCCAGGGTGAGGATGACTCATGACCACTTGCAAGTGGTTTTTGTGTCTGGGGTTTATGATCACACAGTCATACACGTTCTAACTCCAGACTGACTGTTGAGAAAGCCTCTGGGTAAGGGAATTCCTGGGAAACACACTGTTTTCATGCATCCTCTGGAAGATGAGGCCTGAAGTTACCAGGGTCTCTGTTTGCTGATGCTGATGATCCACATTTTCTAGCCCACTCTGCTTCTCTGACACCTTTAGTCTTGAGGATCCATGNTCTGTGAAGGAATCCAAGCTCTCATTTCGCACTCACCTTGGCCCTGGCTCTGTCTCCAGGACCTCTTCTACTACAAAATCCTAAAGCTCTGGGAGCTGGGTGTCAACCTGTGCCCGAGGAAATCATACAGTTACTGTGGACTTTCCAGTTTGCTGTCTTCTAGTATTCCATTGTAGCTCTTGGGTATTTTCCCATCCACCCCAAGATCCAGCTGGAAATCAGTGAACACACTTGATGGGAGTTTTCCTGCATGTGCTCTGGGCATTGACAG

The genetic code*

* From Molecular Biology of the Cell, 3rd edition

UUC = Cys

UAA = STOP

Proteins

Bovine insulin

Proteins

Proteins can bemodified in many ways.

The consequences of variation in the genome(phenotypic variation)

The consequences of variation inthe genome (disease)

Glycolysis

Metabolism

Applications

HealthProvision of:•Diagnostic markers•Prognostic indicators•“Custom” therapies•Avoidance of ADRs•New therapeutics•etc

AgricultureCharacterization of:•Pest resistant crops•Drought resistant crops•Disease resistant herds•etc

Genome B.C. Research Portfolio*

AquacultureGenomics Research on Salmon (SFU & UVic)

EnvironmentMicrobial Envirogenomics (UBC)

Ethics (Ethical, Environmental, Economic, Legal and Societal)

Democracy, Ethics and Genomics (UBC)Forestry

Forestry Genomics (UBC)Health

Studies of Early Stage Cancer (B.C. Cancer Agency)Bioinformatics of Mammalian Gene Expression (B.C. Cancer Agency)Atlas of Gene Expression in Mouse Development (B.C. Cancer Agency)The Nematode as a Model Organism (SFU & UBC)Genomics of the Pathogen Cryptococcus neoformans (UBC)Expression Profiles of Cells & Tissues C. elegans (SFU)

*Courtesy B. Schmidt, Genome BC

DNA Sequencing Movie

Government and non-profit funding

Genome Canada*

• Genome Canada is a not-for-profit corporation dedicated to developing and implementing a national strategy in genomics research for the benefit of all Canadians. Genome Canada has received $375 million to date from the federal government to fund five research centres across the country.

 • Genome Canada and these 5 Genome Centres (Atlantic, Québec,

Ontario, Prairies and BC) work closely with other partners such as provincial governments, the private sector and national and international foundations to ensure that Canada becomes a world leader in genomics research in key selected areas such as Agriculture, Environment, Fisheries, Forestry and Health.

*Courtesy B. Schmidt, Genome BC

Special ChallengesDevelopment of new technologies continues apace, with the aim of increasing throughputs, decreasing operating costs and more sophisticated approaches and tools.

State of the art robotics and computers have a life span of ~2 years. A minimum requirement for maintenance of a nationally and internationally competitive research community requires an ongoing commitment to access and operate state of the art technologies.

Effective training of young genome researchers relies on the existence of established genomics research programs and platforms.

Retention of established researchers relies on their ability to conduct internationally competitive research.

British Columbia Genomics Community*

(Representative)

SFU UVic BCCA UBC VGH

CMMT CGDN Prov. of B.C. MSFHR NSERC

QLT Xenon Kinetek Kinexus BC Biotech

WED Industry Canada

HRDC NRC CIHR

* Courtesy B. Schmidt, Genome BC

BC Cancer Agency

Thank you for your support of the

BC Cancer Agency and

Genome British Columbia!