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J Hamel
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Decks in this class (31)
Seminar paper 1: mtDNA
What was the purpose of this paper,
Why did the authors think it was ...,
How did the authors look at varia...
18
cards
Seminar paper 2: Gaucher disease
What is gaucher disease,
What was the purpose of this paper,
What was the main finding of this...
14
cards
Seminar paper 3: pseudogenes
What was the purpose of this paper,
How did the authors differentiate...,
How similar are the pten and pten...
12
cards
Seminar paper 4: minisatellites
What is high stringency,
How do you make high stringency c...,
What is low stringency
8
cards
Overview
What is genetics,
What is human genetics,
What are 3 reasons to bother stud...
6
cards
Mitochondrial genome
How large is the mitochondrial ge...,
What are 4 physical features of t...,
How are the heavy and light stran...
21
cards
Cytogenetics
What is cytogenetics,
When did we know about the chromo...,
Why were we constantly getting ch...
21
cards
Chromosome banding
What is the most commonly used ba...,
What are the dark bands created b...,
What are the light bands created ...
33
cards
Sequence of nuclear genome
Is the human nuclear genome homog...,
How were the kinetic studies on t...,
Why will dna reanneal at differen...
11
cards
Computer programs to help study the nuclear genome
What is blast,
What does blast do,
What is the query in a blast search
26
cards
Features of human genes
Why do we want to have common fea...,
What are 3 conserved promoter ele...,
What are 4 common features of hum...
7
cards
Unique fraction of the human genome
Are all human genes the same size,
What is the relationship between ...,
What is exonic contribution
6
cards
Moderately repetitive fraction of the human genome
What is the major contributor to ...,
Are gene families common in prote...,
What is included in a gene family
50
cards
Highly repetitive fraction of the human genome
What type of sequences make up th...,
Are the satellite regions on acro...,
How can satellite sequences be se...
11
cards
Genome shaping mechanisms
What are 5 mechanisms to explain ...,
How do whole genome duplications ...,
What is the result of whole genom...
7
cards
Overview of genetic disorders
Are any diseases solely the resul...,
What types of diseases have signi...,
What types of diseases have a str...
7
cards
Mendelian disorders
0
cards
Positional cloning
To do positional cloning what do ...,
What are the 5 basic steps in pos...,
How do you find the candidate region
20
cards
Molecular markers
What are restriction fragment len...,
Are rflps highly polymorphic,
How do we detect rflps
28
cards
Determining linkage
What are ceph families,
What are the 4 criteria that had ...,
How do we determine linkage in hu...
17
cards
Positional cloning - genes in critical region
How would we identify the genes i...,
How would we identify the genes i...,
Why do we need to be cautious whi...
12
cards
Position independent gene identification
How could we identify a disease g...,
Why do we need to use degenerate ...,
Why don t we need to have every s...
12
cards
Genome wide association studies
What types of diseases do rare bu...,
What types of diseases do common ...,
What types of diseases do common ...
35
cards
Clinical cytogenetics
What are 7 reasons why someone mi...,
Why would someone be sent for cyt...,
What is fish
15
cards
Structural and numerical chromosome abnormalities
What are unbalanced abnormalities,
What are the 6 types of unbalance...,
What are balanced chromosome abno...
31
cards
Mixoploidy
What are mixoploid individuals,
What is mosaicism,
What are 5 mechanisms that lead t...
6
cards
Copy number variants
Why are some chromosomal abnormal...,
How do we detect small deletions ...,
How do we do comparative genomic ...
18
cards
Genetic testing
What is the difference between a ...,
Who are screens applied to,
Do screens result in definitive d...
9
cards
Genetic testing - screening
What is newborn screening,
What do newborn screens look for,
What is heterozygote screening
10
cards
Evaluation of genetic tests
What are the 4 components of the ...,
What is analytical validity,
What is clinical validity
21
cards
Disease brochures
What is the inheritance pattern o...,
What is the underlying mutation o...,
What are the symptoms of charcot ...
13
cards
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GENE 418: Human Genetics
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