Week 1: New Genomics Flashcards
1
Q
Karyotype Resolution
A
5 Mb
2
Q
FISH Resolution
A
40-250 kb
3
Q
Microarray (aCGH)
A
30 kb
4
Q
aCGH is 1st line test for:
A
- Multiple anomalies but no well-defined syndrome 2. Apparently non-syndromic DD/ID 3. ASD
5
Q
CMA Limitations
A
No balanced rearrangements, no low-level mosaics, no information on structural nature
6
Q
SNP array can detect
A
CNVs, ROH, UPD
7
Q
WES Detection Rate
A
25-50%
8
Q
WES Limitations
A
Limited detection of CNVs/trinucleotide repeats, not all exons, not all exons well-covered, doesn’t look in regulatory/untranslated regions
9
Q
WES ‘major’ ‘risk’
A
Incidental findings
10
Q
Must report incidental findings, regardless of age or desire if
A
On ACMG Minimum 57 list
11
Q
Variants in what genes can affect Warfarin Metabolism
A
CYP2C9, VKOR1C
12
Q
What genetic variant can contribute to Abacavir hypersensitivity
A
HLA-B*5701
13
Q
What variant can negatively affect Clopidogrel metabolism
A
CYP2C19*2
