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path3305

This class was created by Brainscape user Dom Brooke. Visit their profile to learn more about the creator.

By: Dom Brooke
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Decks in this class (20)

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
24  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

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path3305

  • Class purpose General learning

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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
  • 25 learners
Decks: Lecture 1 Introductory Concepts, Lecture 2 And 3 Human Variation, Lecture 4 Epigenetic Variation, And more!
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