Module 2 - Part 1

Question 1

Human genome project

Answer 1

• 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

Question 2

Sanger sequencing

Answer 2

• chain termination/dideoxy seq method
• technique used to seq the first human genome

Question 3

Whole Genome Seq Process (5)

Answer 3

1. DNA extraction
2. DNA shearing
3. DNA library prep
4. DNA library seq
5. DNA seq analysis
   WES more cost effective than WGS

Question 4

Whole Exome Seq Process (3)

Answer 4

1. protein coding regions are captured & isolated using DNA microarray
2. non-coding regions are washed away
3. sequencing only performed on coding DNA

Question 5

DNA microarray

Answer 5

High throughput technology that examines dif in gene expression for 1000s of genes
- uses cDNA which is derived from mRNA (coding regions only)

Question 6

Ancestry testing

Answer 6

• uses genotyping that identifies single nucleotide polymorphisms unique to a certain population
• other info: disease susceptibility, familial traits

Question 7

Targeted panel sequencing

Answer 7

• 40-400 genes
• high coverage
• rapid (few days)
• high accuracy (few mutations tested)

Question 8

WES info

Answer 8

• 22,000 genes
• intermediate coverage
• slower (few weeks)
• good accuracy, many mutations tested

Question 9

WGS info

Answer 9

• all genes, translocations & non-coding DNA
• lower coverage
• slower (several weeks)
• all mutations tested, lower accuracy

Question 10

Single nucleotide polymorphism (SNP)

Answer 10

• 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)

Question 11

Genetic testing techniques

Answer 11

1. Karyotyping - chromosomal abnormalities, looks at banding patterns
2. FISH - fluorescence in situ hybridization
3. NGS to survey entire genome

Question 12

Ancestry

Answer 12

a person’s line of descent; their background (genetics)

Question 13

Ethnicity

Answer 13

includes a person geographical & cultural ties to their background