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Rachel Challis
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Decks in this class (45)
19.01.01 dna structure packaging histone modification and chromatin
19.01.01_dna_structure_packaging_histone_modification_and_chromatin
49
cards
19.01.02 Chromosome structure and organisation in human
Chromosome structure and organisation in human
34
cards
19.01.03 relationship between chromosome structure and banding
G banding dye,
Romanowsky giemsa effect,
G banding staining regions
39
cards
19.01.04 gene structure
Define gene,
Two types of gene are,
Pseudogenes
20
cards
19.01.05 DNA replication
DNA replication
58
cards
19.01.06 Cell Cycle, Mitosis, Meiosis, Recombination
Cell Cycle, Mitosis, Meiosis, Recombination
43
cards
19.01.07 Transcription, mRNA processing (excluding splicing) and translation
Transcription, mRNA processing (excluding splicing) and translation
49
cards
19.01.08 splicing
Splicing
24
cards
19.01.09 Nonsense mediated mRNA delay (NMD)
What are mrna surveillance pathways,
Name 3 mrna surveillance pathways,
Nonstop mediated mrna decay pathw...
12
cards
20.1.10 Functional Noncoding RNAs
Give 4 examples of functional non...,
How many rrna molcules are there,
What are cytoplasmic ribsosomes c...
44
cards
20.01.11 Regulatory noncoding RNAs
What are ncrnas,
Categories of ncrnas,
What are micrornas mirna
26
cards
20.01.12 Normal variation in human genome
What is normal genomic variation,
What are microscopically visible ...,
Can balanced chromosomal rearrang...
27
cards
19.01.13 Mechanisms of mutations in DNA
What is a mutation,
How do mutations arise,
Dna damage what are the two class...
35
cards
20.01.14 Pseudogenes and clinical relevance
What is a pseudogene,
Why are pseudogenes common,
What are the subclasses of pseudo...
20
cards
20.01.15 Origins of aneuploidy including recombination
What are gametes,
What is aneuploidy,
What is cross over
32
cards
20.01.16 Origin of other structural abnormalities
What produce double stranded breaks,
What causes most recurrent rearra...,
What causes non recurrent rearran...
16
cards
20.01.17 Segregation of Structural Abnormalities
What percentage of pregnancies mi...,
Proportion of miscarriages with a...,
Percentage of women with 2 miscar...
43
cards
19.01.18 LCRs and genomic disorders
What are low copy repeats,
What is a genomic disorder,
Contiguous gene syndrome
20
cards
19.01.19 Origin of mosaicism
What is the definition of mosaicism,
What is the definition of chimerism,
What determined pattern of mosaicism
29
cards
19.01.20 Epigenetics/DNA methylation across the genome
What is epigenetics,
Why is dna methylation important,
How are genes methylated
26
cards
20.01.21 X inactivation in females
What is x inactivation,
What x is inactivated normally,
What does the inactivated x look ...
18
cards
20.01.22 Origins of UPD
What is upd,
Clinical consequences for upd,
Syndromes associated with upd
27
cards
19.07.01 audit
Define audit according to iso 900...,
External audits examples,
Internal audit
19
cards
19.07.02 quality management
Define quality management system qms,
Purpose of qms,
What is q pulse
13
cards
19.07.03 EQA
What is eqa,
Main objective of eqa,
What is involved in eqa
40
cards
19.07.04 Assessment of tests
Why is it important to assess per...,
What is acce framework,
What is analytical validity
31
cards
19.07.05 New test in lab
What is verification,
What is validation,
What framework is used in the pro...
21
cards
19.07.06 Clinical governance and risk managment
What is clinical governance,
7 points of clinical governance,
What is risk management
28
cards
19.07.07 Health and safety
Health and safety policy is requi...,
What is the health and safety exe...,
Aims of hse
30
cards
19.07.08 Screen vs test
What is a screen,
Aim of a screen,
Is a screen considered to provide...
37
cards
19.07.09 Future of genetics- service delivery
What is the population size that ...,
Aim of genomic medicine service r...,
What does the nhs genomic medicin...
18
cards
20.07.10 Future of genetics- restructuring
What is the nhs genomic medicine ...,
What are the 6 key elements of na...,
What are the benefits to systemat...
10
cards
19.07.11future_of_genetics_in_pathology
How many tumour genomes will 100k...,
Which companies will use tumour g...,
What is the stratified medicine p...
23
cards
19.07.12 External agencies
What is the bsgm,
What does the bsgm do,
What is the eshg
27
cards
19.07.13 legislation related to ethics and genetic testing
Where do modern medical ethics st...,
Data protection act 2018,
Examples of eu charter of fundame...
9
cards
19.07.14 Internal QC validating new methods
Internal quality control,
What steps are an essential part ...,
What is verification
22
cards
19.07.15 Website for genetics labs
Why is a website important,
What information should be on a w...,
Who should maintain the website
4
cards
19.07.16 Databases and workflow
What are databases for,
What is lims,
Benefits of lims
11
cards
19.07.17 lab budgeting
Issues facing current nhs budget,
Three main options for decreasing...,
Considerations when decreasing a ...
12
cards
19.07.18 Incidental findings
What is an incidental finding ifs,
What are the three categories of ifs,
What is an actionable if
22
cards
19.07.19 Guidelines for WES/WGS
Benefits of wes over wgs,
Benefits of wgs over wes,
Current acmg guidelines of when w...
6
cards
Session 7 - Quality and Lab Management
What is the definition of audit,
What are the 5 stages of the audi...,
What are the purposes of audit
116
cards
Reporting
What information should be includ...,
What is the target tat for a post...,
What is the target tat for a pren...
7
cards
Clinical indications for karyotype
What is karyotyping,
Limit of detection for karyotyping,
Clinical indication for karyotype...
7
cards
Session 1 - Background
Name the 5 different forms of dna...,
How is chromatin structure mainta...,
What histone modifications are po...
61
cards
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Path 19.01 and 19.07
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