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Daniel Egan
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Decks in this class (29)
Modes of inheritance
Define autosomal dominant inherit...,
Define autosomal recessive inheri...,
Define x linked dominant inheritance
7
cards
Types of variants
What are the 5 types of variants
1
cards
NGS chemistry
What is sequencing by synthesis i...,
What are the 4 steps in the seque...,
What are the two methods of enric...
10
cards
NGS file formats
What information is contained in ...,
What is bcl2fastq,
What is the fastq format used for
23
cards
NGS methods
What is a targeted gene panel and...,
What is exome sequencing and what...,
What is whole genome sequencing a...
4
cards
Variant prioritisation
What are the 2 methods of filteri...,
What are the 4 steps in variant p...
2
cards
NGS pipeline
What are the 5 steps in a ngs bio...,
What involved in the quality cont...,
What is the qscore and how can it...
18
cards
Variant interpretation
What qa methods are implemented f...,
Name 4 types of dna sequences,
What are the acmg guidlines
13
cards
Informed consent and IF
What 3 things are required for co...,
What is an incidental finding if,
What are the 3 types of ifs
5
cards
Clinical governance
What is clinical goverance,
What are the 7 areas of clinical ...,
What it clinical audit
10
cards
Developing a new test
Acce model,
All new tests must be validated a...,
What is sensitivity and how is it...
13
cards
Information governance
What is the definition of informa...,
What are the 4 key pieces of legi...,
What 4 key changes did the health...
19
cards
Ontologies
What is an onotology,
What is go,
What are the aims of go terms
5
cards
Clincal coding
What is clinical coding,
Why use clinical coding,
Name some uses of clinical coding
6
cards
Software development
What are the 6 stages of the soft...,
What documentation is associated ...,
What is included in the telos met...
23
cards
Choices of resources
What are the 2 types of hardware ...,
List main components of a computer,
List the main peripherals of a co...
17
cards
Programming paradigms and best practice
What is a programming paradigm,
What is pop,
What is oop
10
cards
Medical device directive
What is the mmd,
What is classes as a medical device,
What are the 3 classes of medical...
5
cards
Databases
What is a database,
What is a dbms,
What are the 4 core database func...
15
cards
NHS information standard
What is the nhs information standard,
What are the 6 principles of the ...
2
cards
Data mining and warehouse
What is data mining,
What are 6 data mining techniques,
What is a data warehouse
3
cards
Workflow management
What is a workflow,
What is the aim of using a workfl...,
What considerations need to be ma...
5
cards
Cloud computing
What is cloud computing,
Name 3 service models,
Name 3 deployment models
5
cards
Data security and encryption
What is encryption,
What are the 2 types of encryption,
What is pgp
13
cards
Networking
What is a network,
What is a packet,
What is a switch
10
cards
APIs
What is an api,
Name 2 web apis,
What is soap
4
cards
Stats tests
What is the correlation technique...,
What tests would you apply to com...,
What is regression analysis
4
cards
Web development
What is mvc,
What are the advantages of the mv...,
Name 3 examples of web developmen...
3
cards
Linux command line
What is the shebang,
What is a bashrc file,
What is the bin directory
14
cards
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OSFA_Specialist
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