Future of genomic medicine

Question 1

What are the types of genetic disease?

Answer 1

Monogenic

• one gene
• one or many genes

Multigenic

• many gene
• many mutations

Question 2

Outline the principle of a DNA test

Answer 2

Isolate DNA

Carry out PCR

Hybridisation - visualise

Question 3

What is PCR?

Answer 3

Polymerase chain reaction for amplification of specific DNA strands

Question 4

If DNA sequence is not known, what can be done?

Answer 4

Sanger sequencing to sequence entire length of DNA

Question 5

COmpare Snager and NGS

Answer 5

method

• s - ampl of region of interest
• ngs - fragmnetation, sequencing and mapping

output

• s- sequence of specific area
• ngs - entire genome transcriptome etc

Question 6

what are the adv of snager

Answer 6

quick, provides sequence

but

2000bp limit
not multiplex

Question 7

what are the adv n dis ngs

Answer 7

multiplex

but

costly
take long
data overload
short read length

Question 8

what is the exome

Answer 8

1pc of genome containing 85pc of the disease mutations