Genomics Flashcards

1
Q

genome

A

the entire dna content of an organism or cell

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2
Q

exome

A

the region of the genome that codes for proteins

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3
Q

% of the genome which is exome

A

2%

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4
Q

Non-coding DNA

A

the rest- includes regulatory sequences and ‘junk’

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5
Q

Epigenome

A

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

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6
Q

karyotype

A

chromosomal content of a cell

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7
Q

genomes

A

vary from person to person

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8
Q

what make genomes different

A

nucleotide polymorphisms

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9
Q

nucleotide polymorphisms

A

SNPs, indels and repeats

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10
Q

how many known SNPs in human genome

A

10 mill

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11
Q

how many changes to reference genome coding sequences per person

A

10,00

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12
Q

how many loss of function per person

A

250

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13
Q

an example o how karyotype links to phenotype

A

CML

  • ABL
  • easy to see down a microscope
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14
Q

simple monogenic disorders e.g.

A

CF
-inheritance pattern suggested single gene defect
-

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15
Q

CF is

A

autosomal recessive

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16
Q

genetic linkage

A

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

17
Q

Tom Satinford

A

a progeria athlete from exeter

18
Q

how could we find out what condition Tom has

A

1) trio analysis
2) exome sequences

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

19
Q

example of polygenic diseases

A

diabetes, alzheimers

20
Q

polygenic disease are much

A

more complicated

21
Q

with polygenic disease there is

A

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

22
Q

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

23
Q

GWAS

A

genome wide association study

24
Q

GWAS looks for

A

SNPs that are ‘over represented’ in disease patients

25
SNPs do not
have to be genes- can act as a marker for a different kind of mutation/regulatory region
26
if SNPs are more common then you'd expect
you would expect nearby genes are involved
27
why is GWAS useful to science as well as medicine
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
28
prospective cohort study
allows genotype to phenotype correlation
29
mendelian randomization
determine causality for ons studies. Our genotype is randomly assigned at birth. not influenced by confounding factors.
30
e.g. is smoking bad for you
- there are SNPs associated with heavy smoking - assume SNPs aren't causal for death - but are they associated with death?
31
GWAS does not
explain all common disease | e.g. environment must also be important (lung cancer)
32
what about epigenetic changes
changes to DNA that do not affect its base sequence are thought to be environemntal
33
you can..
can map methylation in a genome | - some abnormal methylation patterns correlate with certain disease e.g. Alzheimer's and cancer
34
CRISPR can help
provide answers as to where genes are being turned on or off to cause disease, or if its cause or effect
35
polygenic diseases often have
environmental elements- leading to epigenetic changes
36
genome sequencing and GWAS used to identify
defective/ contributory genes
37
big data sets being use to
establish correlation