GENOMIC AND TRANSCRIPTOMIC ANALYSIS OF DISEASE
o Precision medicine driven by
technology. Cost of sequencing human
genome is dramatically reduced.
What Happens in Disease?
Genetic changes in DNA.
Abnormal levels of gene expression.
Abnormal DNA methylation/histone modifications
(epigenetics).
Aberrant protein folding/post-translational
modifications.
DNA sequencing is the first step in identifying genomic
abnormalities.
Sanger sequencing has low throughput. Limited DNA bases
can be looked into. It is inexpensive and fast.
, Next generation sequencing looks at many genes at the same time. Able to look at many components
of many different genes. High throughput but expensive. Historically slow but faster.
Whole mRNA-sequencing (RNA-seq)
1. Global GEP
2. Identifying novel/fusion transcripts
3. Identifies splice isoforms
4. Identify biological pathways in cancer
Large Genomic Initiatives
- TCGA (The Cancer Genome Atlas). Not
just genomic data, but gene expression,
copy number analyses. Also,
computational tools and repository of the
data.
- ICGC (International Cancer Genome
Consortium). Global initiative to build a
comprehensive catalogue of mutational
abnormalities in the major tumour types.
- Initiatives created data portals which are
open to the research community. Open
access resource for interactive
exploration of multi-dimensional
cancer genomics data sets.
o Precision medicine driven by
technology. Cost of sequencing human
genome is dramatically reduced.
What Happens in Disease?
Genetic changes in DNA.
Abnormal levels of gene expression.
Abnormal DNA methylation/histone modifications
(epigenetics).
Aberrant protein folding/post-translational
modifications.
DNA sequencing is the first step in identifying genomic
abnormalities.
Sanger sequencing has low throughput. Limited DNA bases
can be looked into. It is inexpensive and fast.
, Next generation sequencing looks at many genes at the same time. Able to look at many components
of many different genes. High throughput but expensive. Historically slow but faster.
Whole mRNA-sequencing (RNA-seq)
1. Global GEP
2. Identifying novel/fusion transcripts
3. Identifies splice isoforms
4. Identify biological pathways in cancer
Large Genomic Initiatives
- TCGA (The Cancer Genome Atlas). Not
just genomic data, but gene expression,
copy number analyses. Also,
computational tools and repository of the
data.
- ICGC (International Cancer Genome
Consortium). Global initiative to build a
comprehensive catalogue of mutational
abnormalities in the major tumour types.
- Initiatives created data portals which are
open to the research community. Open
access resource for interactive
exploration of multi-dimensional
cancer genomics data sets.
