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Dom Brooke
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Decks in this class (25)
1 - Organisation of the Human Genome
What are the two genomes of every...,
What does the mitochondrial genom...,
Retrotransposons 3
17
cards
2 - Human Variation in Health & Disease
Human genetic variation 1,
What mechanisms contribute to gen...,
Types of variation 3
26
cards
3 - Mechanisms of Mutation (Spontaneous & Induced)
What are nucleotides known to be ...,
Chemical stability of dna 2,
Tautomers 3
13
cards
4 - Mechanism of Mutation (Errors of DNA Replication & Repair)
What types of abnormalities need ...,
Direct dna repair 2,
Base excision repair ber 3
14
cards
5 - Epigenetic Variation
Epigenetics 1,
Epigenetic processes 2,
Chromosomes 3
32
cards
6 - Mitochondrial Genetics
Mitochondria 1,
Mitochondrial genetic material 2,
Four compartments of mitochondria 3
19
cards
7 - Mitochondrial Disease
Mitochondrial dna 1,
Nuclear dna 2,
Examples of diseases that result ...
19
cards
8 - Population Genetics
Gene pool 1,
Population 2,
Population genetics 3
23
cards
9 - Detection of Genetic Variation
Mutation 1,
Polymorphism 2,
Genotyping mutation detection 3
25
cards
9a - Detection of Genetic Variation 2
Dna sequencing 1,
Sanger technique dideoxy sequenci...,
Dideoxy dna sequencing steps 1 5 3
18
cards
9b - Emerging Technologies
Exome sequencing 1,
Fetal akinesia 2
2
cards
10 - Evaluating Genomic Variants
Purpose of genetic testing 1,
Pathogenic variant 2,
Benign variant 3
30
cards
11 - Intro to Cytogenomics
Medical cytogenomics 1,
Human chromosomes 2,
P arm 3
28
cards
12 - Molecular Cytogenetics 1
Structural variation sv 1,
Copy number variants 2,
Role of genomic architecture on h...
27
cards
13 - Molecular Cytogenetics 2
Monosomy 1,
Trisomy 2,
Whole chromosome aneuploidy 3
27
cards
14 - Cytogenomics of Cancer
Mosaicism 1,
Chimera 2,
Examples of chimera 3
18
cards
15 - Newborn Screening
Phenylketonuria pku 1,
Newborn bloodspot screening nbs 2,
Tandem mass spectrometry msms in ...
21
cards
16 - Rare Lipid Disorders
What lipids do we measure 1,
Apolipoprotein apo b 2,
Inherited lipid disorders 3
12
cards
17 - Familial Hypercholesterolaemia
Cholesterol 1,
Exogenous lipoprotein metabolism ...,
Endogenous lipoprotein metabolism...
16
cards
18 - Pharmacogenomics
Pharmacogenomics 1,
Genetic variation 2,
Examples of variability in drug r...
24
cards
20 - Molecular Diagnosis & Gene Discovery
Deep phenotyping 1,
Why is knowing the disease causin...,
Gene discovery in large families ...
4
cards
22 - Preconception Carrier Screening
Diagnostic testing 1,
Screening 2,
How many lethal mutations do we c...
13
cards
25 & 26 - Ethical Genetics
Clinical geneticists 1,
Ethical principles of genetic tes...,
Autonomy 3
22
cards
Testing methods
Karyotyping 1,
Examples of large structural chan...,
Resolution of karytopying 3
23
cards
Exam
Criteria for selecting disorders ...,
Sanger technique dideoxy sequenci...,
Dideoxy dna sequencing steps 1 5 3
13
cards
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PATH3305
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Looking for something else?
PATH3305 Medical Genetics
- 13 decks
- 191 flashcards
- 27 learners
Decks:
Lecture 1 Introductory Concepts, Lecture 2 And 3 Human Variation, Lecture 4 Epigenetic Variation, And more!
PATH3305
- 3 decks
- 56 flashcards
- 4 learners
Decks:
Organisation Of The Human Genome, Human Variation In Health And Disease, Mechanisms Of Mutation, And more!
