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Eva Ruane
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Decks in this class (14)
Module induction
What is aneuploidy,
What is the maximum resolution fo...,
Which condition is linked to tris...
39
cards
PND aneuploidy
What is aneuploidy,
What proportion of pregnancies ar...,
What are the factors contributing...
40
cards
PND structural abnormalities
What are the 3 main balanced chro...,
What causes the formation of gros...,
What are the 2 types of inversion
40
cards
Rare disease genetic testing
What is sanger sequencing 3,
What are the 2 types of microarrays,
What are oligonucleotide microarr...
19
cards
DNA variant analysis
What are the steps of next genera...,
What is the process of ngs 10,
What is sequencing by synthesis 4
19
cards
Osteogenesis imperfecta
What 3 components make up connect...,
What is ground substance,
What are the cells of connective ...
31
cards
DMD related disorders
What does mpla stand for,
What is mlpa 4,
Why is mlpa used for dmd diagnosis
35
cards
Cystic fibrosis
What is the incidence of cystic f...,
What is the life expectancy of cy...,
What does the cftr gene code for 3
29
cards
Microarrays in genomics
What is a constitutional genetic ...,
What is the resolution of karyoty...,
What is the principle of karyotyp...
35
cards
Hallmarks of cancer
What are the 6 hallmarks of cancer,
How many individuals are affected...,
What is the mortality rate associ...
47
cards
Haematological malignancies
What are the ways in which tumour...,
What is an example of aneuploidy ...,
Which gene is amplified in neurob...
53
cards
Chronic Myeloid Leukaemia
What specific genetic abnormality...,
What is cml an example of,
What diseases are classed as mpns 7
33
cards
Hallmarks of CML
What 3 things are required for a ...,
What causes recurrent formation o...,
How many bcr abl1 fusions are pos...
25
cards
Extra reading
What is the proper notation for t...,
What gene fusion is seen in folli...,
What gene fusion is seen in apl
35
cards
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L3 Clinical Genomics
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