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Rachel Challis
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Decks in this class (26)
20.02.01 Mutation scanning
What is mutation scanning,
Factors that influence the choice...,
What is dhplc
25
cards
20.02.02 ARMs, OLA, Pyrosequencing
What is known mutation detection,
Uses of known mutation detection,
What is allele specific pcr
22
cards
20.02.03 Sizing strategies
What are the two types of startin...,
Issues with using native dna,
Issues with using amplified dna
18
cards
19.02.04 Methylation detection
What is dna methylation,
Why do we need to do additional w...,
What is the common modification p...
17
cards
20.02.05 Copy number detection techniques
What is g banding,
Advantages of g banding,
Disadvantages of g banding
34
cards
20.02.06 SNP Arrays
What is a snp,
Is the distribution of snps homog...,
What can be used as a predictor o...
21
cards
20.02.07 Other arrays
Array cgh,
Bac array,
Pros of bac array
20
cards
20.02.08 Interpretation of CNVs
What is a cnv,
Categories of cnvs,
Basics of cnv classification
23
cards
20.02.09 Quantitative real time PCR
What is quantitative pcr,
Which phase of the reaction is th...,
How many pcr products are produce...
31
cards
19.02.10 Low level mutation detection
What is low level mutation detection,
List 3 applications when low leve...,
Somatic mutations in tumour sampl...
21
cards
20.02.11 Protein based techniques
Name 4 protein based techniques,
What does western blotting do,
Uses of western blotting
33
cards
20.02.12 RNA based techniques
Disadvantages of using rna for mo...,
Rna mutation detection techniques,
What can reverse transcriptase pc...
36
cards
19.02.13 Sanger sequencing
What is sanger sequencing used for,
Principles of sanger sequencing,
Classical chain termination method
6
cards
19.02.14 NGS technologies
What is library preparation,
Enrichment methods,
Enrichment method amplicon pcr based
9
cards
20.02.15 NGS - applications
What is wgs,
What is wes,
Pros and cons of wgs and wes
22
cards
20.02.16 NGS - Bioinformatics
What is a bioinformatic pipeline ...,
What is a bcl file,
What are fastq files
30
cards
20.02.17 NGS- service delivery and patient pathways (panel design)
Different types of target enrichm...,
Considerations when choosing gene...,
What is panelapp genomics england
16
cards
20.02.18 Third generation Sequencing
What is third generation sequenci...,
Possible uses of tgs,
Advantages of tgs
25
cards
19.02.19 Interpretation of unclassified variants
Critical gene information for var...,
Important variant information to ...,
When are mdts useful
15
cards
20.02.20 External databases/ Bioinformatic resources
What are external bioinformatic d...,
Types of bioinformatic databases,
What two types of dna databases a...
15
cards
20.02.21 Cell culture and chromosome staining techniques
What clinical indications may war...,
What blood cells are manipulated ...,
What growth media is used
42
cards
20.02.22 Finding disease related genes using cytogenetics, linkage etc.
Ways apparently balanced transloc...,
Example of a gene found by sub mc...,
Example of a gene found by disrup...
35
cards
19.02.23 Finding disease related genes using NGS
Name 3 methods for gene discovery...,
What are targeted panels suitable...,
What are the consideration for ta...
17
cards
20.02.24 Calculations in Genetics/Risk assessment
Who published bayes theorem,
When is bayesian analysis applied...,
How is bayesian analysis performed
12
cards
Syndromes and recurrence risks chromosome abn
What is common x y translocation,
What is the carrier rate of rober...,
What is the risk of an abnormal l...
26
cards
Session 2 - testing methods
What factors influence method of ...,
Name some methods that can be use...,
What are the advantages of maldi tof
116
cards
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