Intro To Bioinformatics

Question 1

What is the definition of bioinformatics?

Answer 1

The field of science in which biology, computer science and IT merge into a single discipline. The ultimate goal is to enable to discovery of new biological insights and to create a global perspective from which unifying principles in biology can be discerned.

CLINICAL BIOINFORMATICS brings together clinical data, basic biology and bioinformatics to provide personalised healthcare and understanding of the genetic, molecular and cellular basis of disease, pulling together the clinical research and clinical data contexts.

Question 2

What are the challenges in bioinformatics?

Answer 2

Databases and resources:
- must be able to store and retrieve lots of data

Search and analysis tools
- need to be able to infer function by comparison

Interfaces and visualisation tools
- need to look at lots of data

Question 3

What is the definition of genomics?

Answer 3

The study of all the genes in an individual, their interactions with each other, the environment and roles in complex disease.

NO LONGER LOOKING AT A SINGLE GENE AS WITH GENETICS
can investigate complete genetic content

Question 4

What is the human genome project?

Answer 4

An international collaboration to sequence the entire human genome, using a process called ‘shotgun sequencing’. And to research the consiquences of human genome sequence (ELSI program)

Completed in April 2003 - essentially complete (ahead of schedule)

Sequences 3.2 billion base pairs (under budget at >1$ per base pair)

Identified 20-25k genes (fewer than expected)

Question 5

What is the human genome reference consortium?

Answer 5

This puts the sequences from the HGP into a chromosomal context.

It consists of:

• The Wellcome Trust Sanger Institute
• The Genome Institute at Washington University
• The European Bioinformatic Institute
• The National Center For Biotechnology Information

Question 6

How is genomic data stored?

Answer 6

Due to commercial NGS and the HGP there is a massive growth in the amount of sequenced data.

Genomic data is stored in bits and bytes:, with one base pair being described in two bits:

• A = 00
• C = 01
• G = 10
• T = 11

The human genome is approximately 760 MB

The existing infrastructure is insufficient, improvements are needed in

• data access
• data standards
• Storage

Question 7

What are additional data sources for genomics?

Answer 7

• gene expression microarray
• MS (of proteins and metabolites)
• family history
• phenotype
• asking biologically meaningful questions, eg:
  - what genes cause the condition
  - what is the normal function of gene Y

Question 8

What are the applications of clinical bioinformatics?

Answer 8

To clinical problems:

• understanding disease
• treatment and management
• development of medicine
• personalised treatment