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Rachel Challis
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Decks in this class (20)
19.04.01 Population genetics definitions
Definition of allele frequency,
Definition of association study,
Difference between association st...
24
cards
20.04.02 Association studies linkage v association linkage disequilibrium
What is linkage analysis,
What sort of disorders are suited...,
What does linkage analysis require
24
cards
20.04.03 Linkage analysis
What is linkage analysis,
What does linkage analysis require,
What is parametric linkage analysis
30
cards
19.04.04 Population genotyping
Examples of population studies,
Why study genetic variation,
1000 genomes project
10
cards
20.04.05 Direct to consumer testing
What is direct to consumer testing,
What is the us clia 1988 act,
Where does the fda us food and dr...
19
cards
20.04.06 Population screening - guidelines and ethics, future possibilities
What is a population screening pr...,
Difference between genetic screen...,
What are the who criteria for gen...
14
cards
20.04.07 New-born Screening
Which committee is responsible fo...,
How many newborns are screened ev...,
What criteria did who develop to ...
23
cards
20.04.08 Biochemical genetics - inborn errors of metabolism
What are inborn errors of metabolism,
Why is genetic testing important ...,
Review of zellweger syndrome spec...
11
cards
20.04.09 Lysosomal storage disorders
What are lysosomal storage disorders,
What are lysosomes,
Collective incidence of lysosomal...
25
cards
20.04.10 Haemoglobinopathies - sickle cell, thalassemia's
What are haemoglobinopathies,
What is haemoglobin,
Normal red blood cells contain 3 ...
35
cards
20.04.11 Blood disorders
What are blood disorders,
Name 3 common bleeding disorders,
How are bleeding disorders curren...
16
cards
19.04.12 Cardiac genetics
What are the two main groups for ...,
What are cardiomyopathies,
Name 5 main subtypes of cardiomyo...
30
cards
20.04.13 Genetic causes of Infertility
Who definition of infertility,
What proportion of couples will c...,
What proportion of couples have u...
41
cards
20.04.14 Structural abnormalities of X chromosome
What are sex chromosome abnormali...,
How prevalent are congenital sex ...,
What is an isochromosome xq
21
cards
20.04.15 Structural abnormalities of Y chromosome
What are the 3 unique features of...,
How is y chromosome useful for ge...,
Why is it a difficult chromosome ...
38
cards
20.04.16 Sex chromosome aneuplodies
What is genetics associated with ...,
Klinefelter syndrome common symptoms,
Klinefelter syndrome what is the ...
21
cards
19.04.17 Sex determination
What is sex determination,
What is sex differentiation,
What are urogenital ridges
15
cards
20.04.18 Disorders of sexual development
What are disorders of sexual deve...,
Step 1 in sexual differentiation,
Step 2 in sexual differentitation
13
cards
20.04.19 Whole genome sequencing projects e.g. 100,000 genomes
What will 100 000 project sequence,
Who runs 100 000 project,
Aims of 100 000 project
17
cards
Session 4 - Screening and biochemical genetics
Define linkage,
Define an association study,
What are the advantages and disad...
152
cards
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Path 19.04
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