Clinical Bioinformatics

Question 1

What is bioinformatics?

Answer 1

A combination of principles from computer science and information technology, used to handle and interpret the large datasets generated by genomic analysis.

Question 2

What does a genetic report likely contain?

Answer 2

• In many cases, you will receive a genetic report with 1 or 2 likely pathogenic variants.
• The report will also have information about the variant and the likely genetic diagnosis.
• It may be the case that you haven’t ever heard of the gene before, or even the disease if it is rare.

Question 3

What is a ‘rare’ disease?

Answer 3

A “rare disease” affects < 1 in 2,000 people (EU)

There are > 7,000 rare diseases

7% of the population will be affected by a rare disease (3.5 million people in the UK)

Question 4

What is NCBI?

Answer 4

National Centre for Biotechnology Information

Question 5

What is OMIM?

Answer 5

Online Mendelian Inheritance in Man

View lecture for tutorial on using this website

Question 6

What is GeneReviews. What can it be used for?

Answer 6

GeneReviews, an international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardised journal-style format, covering diagnosis, management, and genetic counselling for patients and their families.

Helpful for answering parental questions.