POPH20001 Lecture Notes - Lecture 10: Mutation, Protein Structure, Missense Mutation

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Lecture (cid:1005)(cid:1004) notes (cid:494)most health systems around the world are not fit to shepherd genome sciences into routine health care(cid:495). Challenge: whole system change: genomics need everyone working together sharing information and system. How clinical bioinformatics is different to research bioinformatics. Build the analysis system for the whole workflow: complex routine is what we want to work toward in a routine system about research but also making it accessible. The genome is 3 billion letters long: get genomes from blood, shred them up and then put them back together. Figure out what went wrong when putting it back together. Spot the differences: sampling sampled most of the pieces and put together the puzzle, some pieces you don(cid:495)t and never will get, reference has missing pieces, and repetitive pieces. Challenges: bioinformatic (statistical and computational) challenges arise in : the sequencing the reference the analysis the interpretation. Understanding these challenges and incorporating them into the analysis is the job of bioinformatics.

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