Class notes
Personalized Medicine Week 5 Lecture Notes
- Course
- Institution
Lecture notes from week 5
[Show more]
Seller
Follow
edoz02
Content preview
GENOMIC AND TRANSCRIPTOMIC ANALYSIS OF DISEASEo 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.
The benefits of buying summaries with Stuvia:
Guaranteed quality through customer reviews
Stuvia customers have reviewed more than 700,000 summaries. This how you know that you are buying the best documents.
Quick and easy check-out
You can quickly pay through credit card or Stuvia-credit for the summaries. There is no membership needed.
Focus on what matters
Your fellow students write the study notes themselves, which is why the documents are always reliable and up-to-date. This ensures you quickly get to the core!
Frequently asked questions
What do I get when I buy this document?
You get a PDF, available immediately after your purchase. The purchased document is accessible anytime, anywhere and indefinitely through your profile.
Satisfaction guarantee: how does it work?
Our satisfaction guarantee ensures that you always find a study document that suits you well. You fill out a form, and our customer service team takes care of the rest.
Who am I buying these notes from?
Stuvia is a marketplace, so you are not buying this document from us, but from seller edoz02. Stuvia facilitates payment to the seller.
Will I be stuck with a subscription?
No, you only buy these notes for $6.07. You're not tied to anything after your purchase.
Can Stuvia be trusted?
4.6 stars on Google & Trustpilot (+1000 reviews)
79976 documents were sold in the last 30 days
Founded in 2010, the go-to place to buy study notes for 14 years now