T5: Clinical Bioinformatics Flashcards
What is Bioinformatics?
Bioinformatics are used to make quality checks, call variants, annotate variants and make them into something useful. We can therefore interpret large data sets generated by genomic analysis. However software are designed to do a particular task. It is important the right tool is used to perform the task required. Different software will treat the same data in different ways and are dependent upon user inputs. This is why variants are missed despite being present in the data.
How common are rare disease?
Rare disease are common collectively. A rare disease affects 1 in 2000 people in the EU. 80% have a genetic component and 75% affect children. Therefore around 7% of the population in the UK, 3.5 million, are affected.
Give possible parental questions in terms of rare diseases?
Questions on prognosis:
- How will it affect my child? How quickly will it progress? Will my child have a shortened lifespan?
Questions on management: Cure? Treatments? What can I do to help my child?
Questions on causation: How rare is the disease? Have I done anything wrong to cause it? What about my older children? Is genetic testing available? What our options for other children?
What is OMIM?
Online Mendelian In Man - We can use OMIN to see the DNA and protein component of the disease processes. It also tells you whether it has been curated and checked on UniProt linked from OMIN. The links and evidence is also listed. Through NCBI you can look for protein interactions, shaped and binding.
What are other online resources can you use to gain information about genetic diseases?
- Genetic reviews - give up to date clinical and molecular information including diagnosis, management, prevalence and genetic counselling hosted on NCBI.
- Regional genetic services
- Charities and support groups
- PubMed
- Molecular and clinical database
(Inter)National bodies
