Hospital Universitari Vall d’Hebron Institut de Recerca - VHIR Institut d’Investigació Sanitària de l’Instituto de Salud Carlos III (ISCIII) Bioinformàtica per la Recerca Biomèdica http://ueb.vhir.org/2014BRB Ferran Briansó [email protected]20/05/2014 BRIEF OVERVIEW TO AMPLICON VARIANT ANALYSIS
Course: Bioinformatics for Biomedical Research (2014). Session: 3.1- Brief Overview to Amplicon Variant Analysis. Statistics and Bioinformatisc Unit (UEB) & High Technology Unit (UAT) from Vall d'Hebron Research Institute (www.vhir.org), Barcelona.
Welcome message from author
This document is posted to help you gain knowledge. Please leave a comment to let me know what you think about it! Share it to your friends and learn new things together.
Transcript
Hospital Universitari Vall d’HebronInstitut de Recerca - VHIR
Institut d’Investigació Sanitària de l’Instituto de Salud Carlos III (ISCIII)
3Extracted from Dr Kassahn's publicly shared slides (2013)
BASIC CONCEPTS2
4
2
* Being able to characterize viral populations rapidly and accurately is important for understanding pathogenesis, interplay between viruses and humoral responses, and the evolution of drug resistance
* Both HIV-1 and HCV exist as viral quasispecies in a host, i.e. many distinct viral strains are circulating at any given moment in time
* NGS has the potential to directly sequence many such strains
* Using multiplexing (multiple samples/run), high throughput can be achieved
5
2 BASIC CONCEPTS
* Which mutations are real?- Sequencing error- Assay error / reproducibility
* What frequency of mutations matter clinically?
* DRAMs = Drug resistance associated mutations
* Cloning/Single genome sequencing generates ~10-100 sequences; how representative is this of the entire population?
* NGS approach obtain 1000s of reads/sample from a single run