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