Genomics in Modern Medicine Flashcards
1
Q
- This is a technology that permits rapid interrogation of DNA, up to and including entire genomes, via massively parallel sequencing
A
NGS
2
Q
- NGS are technologies that can rapidly interrogate DNA via
A
a. Massively parallel sequencing
3
Q
- How many base pairs, genes, proteins does the human genome have?
A
a. 3.2 billion base pairs
b. 19,000 genes
c. 100,00 proteins
4
Q
- Genetic variation can be based on what?
A
a. Size
b. Location
c. impact on a codon
d. Impact on the protein
e. Impact of the expression
5
Q
- What is the human variation for genetics?
A
a. 0.5% = 16 million base pairs
6
Q
- What are 3 different ways you can have DNA changes?
A
a. Single nucleotide variants
b. In-del
c. CNVs
7
Q
- These are commonly found in the population
A
a. Single nucleotide variants aka SNPs
8
Q
- These are single nucleotide variants that are commonly found in the population
A
SNP
9
Q
- These account for 75% of all DNA changes
A
a. Single nucleotide variants
10
Q
- These cause insertions and deletions of up to 50-100 nucleotides
A
a. In-del
11
Q
- How often do In-del occur compared to Single nucleotide variants?
A
1/10
12
Q
- These are the least frequent but affect the most nucleotides of all the DNA changes
A
CNVs
13
Q
- How can you perform a sample preparation?
A
a. RNA/DNA isolation → library → genome → sequencing
b. RNA/DNA isolation → library → panel → enrichment → sequencing
14
Q
- Each DNA fragment has what?
A
a. Sequencing primer
b. Adapters
c. Barcode
15
Q
- When you have a gene panel from a library, what is required?
A
a. Enrichment
