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(6-10) Translational Medical Science > Trigger 9: Genomic technologies > Flashcards

Trigger 9: Genomic technologies Flashcards

(56 cards)

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1
Q

which is the oldest genomic technology

A

sanger sequencing (1977)

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2
Q

which is the newest genomic technology

A

single- molecular real time (SMRT) sequencing

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3
Q

name 6 forms of genomic technology

A
  • high microscope - G-banded karyotype - Array- CGH - SNP- array - Exome sequencing - genome sequencing
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4
Q

what is G banded karyotype testing

A

a technique used in cytogenetics to produce a visible karyotype by staining condensed chromosomes.

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5
Q

resolution of G banded karyotype

A

5-10Mb

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6
Q

number of loci probed in G banded karyotype

A

around 500

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7
Q

how large do the variants have to be to be to be detected

A

over 5Mb

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8
Q

how many variants detected per person using G banded karyotype

A

0 to 1

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9
Q

diagnostic yield and incidental findings in G banded karyotype

A

low

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10
Q

Array CGH

A

has the ability to explore all 46 chromosomes in a single test and to detect any DNA imbalance including extra or missing chromosomes and loss or gain of chromosome material much more precisely than conventional chromosome analyses (e.g. G banded karyotype)

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11
Q

resolution of Array- CGH

A

50-100kb

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12
Q

number of loci probed in Array- CGH

A

0.05- 2 million

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13
Q

What sort of variants detected in Array- CGH

A

copy number variants

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14
Q

copy number variants

A

a phenomenon in which sections of the genome are repeated

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15
Q

variants per person in Array- CGH

A

10-100s

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16
Q

diagnostic yield and incidential findings in Array-CGH

A

medium ability

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17
Q

resolution of light miroscope

A

entirre genome

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18
Q

number of probed loci in ligh microscopy

A

N/A

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19
Q

variants detected in light microscopy

A

aneuploidy / polyploid

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20
Q

how many variants per person detected by ligh microspcy

A

0 to 1

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21
Q

diagostic yiled and incidental finding ability of lght microscopy

A

low!

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22
Q

outline the Array CGH process

A
  1. Patient and control DNA are labeled with fluorescent dyes and applied to the microarray
  2. patient and control DNA compete to attach to the microarray
  3. the microarray scanner measures the fluorescent signal
  4. computer softwar analyses the date and generated plot (e.g. can see where copy number variant is different
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23
Q

example of array CGH result

Study These Flashcards
A

shows differences between the amount of DNA (e.g. number of CNVs) in controls vis signature

24
Q

copy number variants are largest in what sorts of mutations

Study These Flashcards
A

craniofacial and then autism

25
SNP array
is a type of DNA microarray which is used to detect polymorphisms within a population.
26
resolution of SNP array
10kb
27
number of loci probed in SNP-array
0.1- 2 million
28
variant detected in SNP array
common SNVs
29
how many variants detected per person using SNP array
4 million
30
diagnostic yield and incidental finding ability of SNP-array
medium high
31
resolution of exome sequencing
1bp
32
number of loci probed in exome seuquencing
50 million
33
variants detected using exome sequencing
coding variants
34
variants per person in exome seqeuncing
20,000
35
diagnostic yeild and incidental findings of exome sequencing
high
36
resolution of genome sequencing
1bp
37
number of loci probed in genome sequencing
3 billion
38
variants detected in genome sequencing
most variants
39
variants per person in genome sequencing
4-5 million
40
diagnostic yield and incidental finding ability of genome sequencing
highhhhh
41
strongest genome technology
genome sequecing
42
example of a light microscope
43
G-banded karyotype
44
Array-CGH
45
SNP- array
46
exome sequencing
47
genome sequencing
48
genotyping
determining which genetic variants are present in an individual genome
49
genotyping uses
arrays
50
array
only assay specific type of variants
51
SNP-chip
determines genotype of specific SNPs on microarray
52
array-CGH
determine copy number of scpeific regions on microarray
53
Sequencers
only assay variants within sequenced regions
54
role of sequencing
determining the order of baseparis in a region of DNA
55
sanger sequencing
targets specific exons or a single genome
56
next generation sequencing
targets multiple genes or whole genome

(6-10) Translational Medical Science (40 decks)

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