Lecture 2 Flashcards
Name the 4 types of biological samples used for genetic testing:
Peripheral blood, saliva, chorionic villi, and tissues (such as teeth and bone)
What type of DNA is taken from peripheral blood?
Germ line DNA
What type of tube is peripheral blood collected in?
EDTA → contains anticoagulants
What are the 3 different sections of a clinical DNA analysis lab?
Pre-pcr area (where the DNA is managed before amplification), pcr area ( where the DNA is amplified),and the post-pcr area (where amplified DNA is managed)
What is the term for amplified DNA?
Amplicon
What is the most notable method of first generation sequencing?
Sanger sequence
What is Sanger sequencing based on?
PCR amplification followed by direct sequencing of the amplicons
what is the amplification of all the regions of interest at a time in the same run?
Library
What are the 2 most common types of 2nd generation sequencing?
Illumina and ion torrent
What is 3rd generation sequencing also known as?
Single molecule sequencing
What is different about 3rd generation seq. compared to first and second?
There is no amplification performed before sequencing
Which method does 3rd generation sequencing follow?
2nd generation
What is 4th generation sequencing?
Single cell sequencing
What is an intrinsic bias related to pcr amplification?
It is possible to amplify regions characterized by insertions or deletions and can lead to incorrect or missing amplifications → allele dropout
What type of approach does the Sanger sequence use?
Qualitative
