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Decks in this class (20)
Lecture 1: Organisation of the Human Genome
Dna what does it do,
Shape of dna describe it,
Which types of dna exists as doub...
42
cards
Lecture 8: Population Genetics
What is a population,
What is a gene pool,
What is population genetics
27
cards
Lectures 3 and 4: Mechanisims of Mutation 1 and 2
What is human genetic variation,
Human genetic variation affects who,
Multiple mechanisms contributing ...
88
cards
Lecture 5: Epigenetics
What does epi mean,
What is epigenetics,
Epigenetic definition by adrian b...
66
cards
Lecture 2: Human Genetic variation in Health and Disease
What is the human genome and what...,
What is human genetic variation,
Human genetic variation whom wher...
70
cards
Lecture 6: Mitochondrial Genetics in Health
What happened 36 billion years ago 6,
Life on earth 2 billion years ago,
Mitochondria are essential for li...
35
cards
Lecture 7: Mitochondrial genetic in Health L2
Mitochondria are composed of prot...,
Mitochondrial dna features,
Nuclear dna features
43
cards
Lecture 9a: Overview of Sequencing and NGS UNFINISHED
Dna sequencing what is it develop...,
What is sanger technique,
Dideoxy dna sequencing dideoxy dn...
21
cards
Lecture 14: Cytogenetics of Cancer
Semantics definition of mosaic,
Definition of genetic mosaicism,
How is genetic mosaicism distingu...
33
cards
Lecture 11: Introduction to Cytogenomics
What does medical cytogenomics st...,
What are human chromosomes 4,
Cell division
32
cards
Lecture 9: Detection of Genetic Variation
What is genetic variation mutation 4,
What is genetic variation polymor...,
What is genotyping mutation detec...
41
cards
Lecture 9b: Emerging technologies
Applications of next generation s...,
Next gen sequencing an anlogy,
Exome sequencing process5
26
cards
Lecture 19: Genetic Diagnostic strategies
Central dogma of molecular genomi...,
Diagram on the increasing complex...,
Genome structure overview
50
cards
Lecture 17: Familial Hypercholesterolaemia
Understanding cholesterol 3,
Lipoprotein diagram on slide 3,
Relationship of serum cholesterol...
37
cards
Lecture…: Rare Lipid Disorders
What lipids do we measure,
What is apolipoprotein apo b,
Lipoprotein metabolism diagram
28
cards
Lecture 12: DNA STRUCTURAL VARIATION: COPY NUMBER VARIANTS (CNVS)
What are structural variationssv 3,
Dna copy number variants cnvs,
What are cnvs copy number variants 6
46
cards
Lecture 16: Molecular Cytogenetics DNA structural variation: Copy Number Variants (CNVs)
Abnormal whole chromosome copynum...,
Mechanism for aneuploidy error at...,
Whole chromosome aneuploidy 3
39
cards
Lecture 18: Pharmacogenomics
What is pharmacogenomics 6,
What is genetic variation what is...,
Sources of variation in response ...
45
cards
LECTURE 10: EVALUATING GENOMIC VARIANTS
Why do genetic testing 7,
Recap on a couple of definitions 4,
Diagnostic variant detection is t...
30
cards
Lecture 15: NEW BORN SCREENING
Early detection pku,
Phenylalanine and tyrosine,
Pku how was the term coined
30
cards
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1PATH3305 Medical Genetics
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