POPH20001 Lecture Notes - Lecture 7: Health Informatics, Genomics, Single-Nucleotide Polymorphism
20 Jul 2018
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Document Summary
A whole of system change is needed and what is happening in melbourne. How clinical bioinformatics is different from research bioinformatics. Why analysing the genome is challenging: a "spot the difference" example. What genomic data looks like and why assessing its quality is so important. Why methods to automatically predict the effect of variants are limited. How clinical bioinformatics helps to manage the variant curation workload. A whole of system change and melbourne genomics. Genetic tests were limited to a few common conditions. It was costly to test one gene at a time. But genes were continually being discovered for conditions. It is possible to see what you didn"t wish to test for. Getting the data is easy, analysing it is hard. "most health systems around the world are not fit to shepherd genome sciences. How clinical bioinformatics is different to research bioinformatics. The field of bringing together statistics, biology (what the problems are) and computer science (to do analyses)
