Module 2 - Part 1 Flashcards
1
Q
Human genome project
A
- resulted in seq of the human genome to 99.99% accuracy
- started 1990 completed 2003
- cost to seq 2003 - 100mil USD
- cost to seq 2020 - 1000 USD
2
Q
Sanger sequencing
A
- chain termination/dideoxy seq method
- technique used to seq the first human genome
3
Q
Whole Genome Seq Process (5)
A
- DNA extraction
- DNA shearing
- DNA library prep
- DNA library seq
- DNA seq analysis
WES more cost effective than WGS
4
Q
Whole Exome Seq Process (3)
A
- protein coding regions are captured & isolated using DNA microarray
- non-coding regions are washed away
- sequencing only performed on coding DNA
5
Q
DNA microarray
A
High throughput technology that examines dif in gene expression for 1000s of genes
- uses cDNA which is derived from mRNA (coding regions only)
6
Q
Ancestry testing
A
- uses genotyping that identifies single nucleotide polymorphisms unique to a certain population
- other info: disease susceptibility, familial traits
7
Q
Targeted panel sequencing
A
- 40-400 genes
- high coverage
- rapid (few days)
- high accuracy (few mutations tested)
8
Q
WES info
A
- 22,000 genes
- intermediate coverage
- slower (few weeks)
- good accuracy, many mutations tested
9
Q
WGS info
A
- all genes, translocations & non-coding DNA
- lower coverage
- slower (several weeks)
- all mutations tested, lower accuracy
10
Q
Single nucleotide polymorphism (SNP)
A
- common variations at a single position in a DNA seq amoung individuals
- uses NGS to probe for SNPs in genome
- 23 & me screens for > 1500 SNPs (we have 4-5 mil in human genome)
11
Q
Genetic testing techniques
A
- Karyotyping - chromosomal abnormalities, looks at banding patterns
- FISH - fluorescence in situ hybridization
- NGS to survey entire genome
12
Q
Ancestry
A
a person’s line of descent; their background (genetics)
13
Q
Ethnicity
A
includes a person geographical & cultural ties to their background
