Intro To Bioinformatics

Question 1

What is genomics?

Answer 1

Is the study of the whole genome and how it works

Question 2

Bioinformatics is a?

Answer 2

Multi-disciplinary area that integrates biology with informatics, computer science and mathematics

Question 3

First genome cost?

Answer 3

£2.7 billion in total

Question 4

Humane genome project (hgp) did what?

Answer 4

Enabled the discovery of genes which cause disease
Allowed genetic diagnostics to progress

Question 5

What is sequencing?

Answer 5

Reading the human genome letter by letter (all 3 billion pairs of letters)

Question 6

Better sequencing methods

Answer 6

Cues → sample/ genome → fragmentation → end repair/adaptor ligation → make thousands of copies → genomic samples into sequence machine → bioinformatics analysis of the data

Question 7

Whose DNA was sequenced?

Answer 7

Not know but had several human volunteers who were recruited in a blinded process.
DNA samples were collected that was donated - does not matter as nearly all cells contain the same DNA

Question 8

Most genomes sequenced have been from?

Answer 8

People of European ancestry

Question 9

Diversity in genomic researen

Answer 9

Human DNA sequences are more than 99.9% identical among people
There is a 0.1% genomic difference

Question 10

Triple negative breast cancer TNBC is?

Answer 10

The most aggressive form of breast dancer
Black women more likely to be diagnosed with this sub type of breast cancer

Question 11

Genomic variants can?

Answer 11

Increase the risk of developing diseases, while others may reduce such risk; others have no effect on disease risk

Question 12

Differential gene expression refers to?

Answer 12

Differences in abundance of gene from one Cell to another or one person to an other (such as healthy to disease state)

Question 13

HGP has completely revolutionised biomedical research. How?

Answer 13

Precision medicine in cancer/other diseases
Undiagnosed diseases
Rare diseases
Molecular biology research
Variations between closely related species

Question 14

Why do we sequence genomes?

Answer 14

To create a reference genome.
To do comparative studies
To understand now a species responds to changes under drug pressure
To understand how species diversity
To understand now species are related

Question 15

What is adrug target?

Answer 15

Molecule in the body (usually a protein) that is associated with a particular disease process

Question 16

Reasons why drugs fail?

Answer 16

Mainly because of efficacy.
Ineffective target selectionand validation
Chemistry/ strategy/safety

Question 17

Genomics approach to target discovery

Answer 17

Target different cell types
Extract dna/rna/protein
Perform dna/rna sequencing/ proteomics
Bioinformatics → identify differential gene/protein expression
Gene protein list → identity novel compounds against target