Bioinformatic Technologies

Question 1

What is the central dogma?

Answer 1

DNA codes for mRNA which codes for proteins which codes for metabolites

Question 2

What was the original DNA sequencing technology?

Answer 2

Sanger sequencing- involved a single piece of DNA, sequenced from end to end

Question 3

Describe next generation sequencing

Answer 3

Sequence lots of DNA at once
DNA is cut up and then linkers are put on
Put on a microscope slide
Polymerase chain reaction produces many copies of individual fragments
Forms an image with lots of little coloured lights

Question 4

What is exome sequencing?

Answer 4

Just sequencing the 1% of DNA that we know best

Question 5

What are two important steps in interpreting DNA results?

Answer 5

Sequence read alignment (mapping)

Variant calling and annotation (identifying and visualising sequence variants)

Question 6

What are some of the reasons that a heterozygous mutation in a tumour may not be visible 50% of the time in a DNA sequence?

Answer 6

Two hit hypothesis (normal DNA is completely lost)
Mosaicism (not all cells have the same DNA)
Stroma (normal cells in the tumour contain normal DNA)

Question 7

What is good way to tell if a mutation has occurred in one allele and not the other?

Answer 7

SNPs