Genomics

Question 1

genome

Answer 1

the entire dna content of an organism or cell

Question 2

exome

Answer 2

the region of the genome that codes for proteins

Question 3

% of the genome which is exome

Answer 3

2%

Question 4

Non-coding DNA

Answer 4

the rest- includes regulatory sequences and ‘junk’

Question 5

Epigenome

Answer 5

modifications to the genome e.g. methylation and histone acetylation which may regulate its function

Question 6

karyotype

Answer 6

chromosomal content of a cell

Question 7

genomes

Answer 7

vary from person to person

Question 8

what make genomes different

Answer 8

nucleotide polymorphisms

Question 9

nucleotide polymorphisms

Answer 9

SNPs, indels and repeats

Question 10

how many known SNPs in human genome

Answer 10

10 mill

Question 11

how many changes to reference genome coding sequences per person

Answer 11

10,00

Question 12

how many loss of function per person

Answer 12

250

Question 13

an example o how karyotype links to phenotype

Answer 13

CML

• ABL
• easy to see down a microscope

Question 14

simple monogenic disorders e.g.

Answer 14

CF
-inheritance pattern suggested single gene defect
-

Question 15

CF is

Answer 15

autosomal recessive

Question 16

genetic linkage

Answer 16

a measure of how resistance to recombination marker and phenotype are
- focuses on a very small chromosomal regions

Question 17

Tom Satinford

Answer 17

a progeria athlete from exeter

Question 18

how could we find out what condition Tom has

Answer 18

1) trio analysis
2) exome sequences

Deep sequence both parents- in this case exome only. Deep sequence the probing (tom)- anything new?

Question 19

example of polygenic diseases

Answer 19

diabetes, alzheimers

Question 20

polygenic disease are much

Answer 20

more complicated

Question 21

with polygenic disease there is

Answer 21

some heritable risk, not guaranteed to inherit though. Combination of genetics and the environment

Question 22

with polygenic diseases what could we used to know which genes are involved

Answer 22

GWAS

Question 23

GWAS

Answer 23

genome wide association study

Question 24

GWAS looks for

Answer 24

SNPs that are ‘over represented’ in disease patients

Question 25

SNPs do not

Answer 25

have to be genes- can act as a marker for a different kind of mutation/regulatory region

Question 26

if SNPs are more common then you’d expect

Answer 26

you would expect nearby genes are involved

Question 27

why is GWAS useful to science as well as medicine

Answer 27

often several genes identified which are known to be involved in a shared pathway. gives a clue into the rise mechanism.
Help us in choosing a drug target

Question 28

prospective cohort study

Answer 28

allows genotype to phenotype correlation

Question 29

mendelian randomization

Answer 29

determine causality for ons studies. Our genotype is randomly assigned at birth. not influenced by confounding factors.

Question 30

e.g. is smoking bad for you

Answer 30

• there are SNPs associated with heavy smoking
• assume SNPs aren’t causal for death
• but are they associated with death?

Question 31

GWAS does not

Answer 31

explain all common disease

e.g. environment must also be important (lung cancer)

Question 32

what about epigenetic changes

Answer 32

changes to DNA that do not affect its base sequence are thought to be environemntal

Question 33

you can..

Answer 33

can map methylation in a genome

- some abnormal methylation patterns correlate with certain disease e.g. Alzheimer’s and cancer

Question 34

CRISPR can help

Answer 34

provide answers as to where genes are being turned on or off to cause disease, or if its cause or effect

Question 35

polygenic diseases often have

Answer 35

environmental elements- leading to epigenetic changes

Question 36

genome sequencing and GWAS used to identify

Answer 36

defective/ contributory genes

Question 37

big data sets being use to

Answer 37

establish correlation