Ngs Applications Flashcards
What are the benefits of a genetic diagnosis?
Confirmed- give understanding
Better clinical management
Better prognostication
Determine repro risk
Prediction of disease risk to family members and implement preventative measures
Treatment already available for some genetic conditions
What are the challenges of clinical diagnostic sequencing? Why adopt ngs?
Accurate and reliable Variable and difficult templates Fast tat Ever increasing throughout Low level mutations Wide spectrum of mutations Private mutations Cost pressures Current lack of guidelines- are improving
Reduce cost, more patients, more genomic targets, increased diagnostic yield
Give an example of a ngs platform
Illumina miseq
Roche 454 gs
Life technologies ion torrent
What is read depth?
The number of times a base is sequenced in a single run
List advantages of wes over wgs
Only target coding regions therefore less sequencing required to achieve desired depth Sequencing- Lower cost Data storage costs less Lower bioinformatics burden Fewer vus to interpret More amenable to larger studies Faster
What are limitations of Sanger sequencing?
Time consuming fragments amplified and sequenced individually eg brca1 22 exons,27 per fragments
Lots template Dan required 500ng per fragment
Each fragment analysed separately
What are the applications of ngs?
Diagnose rare genetic disease Personalised medicine Prenatal screening Pharmacogenetics Population screening for disease risk
