University of Melbourne Centre for Systems Genomics Special Seminar
We will give a brief update on plans for the new Centre that we hope will be in full swing by end of 2015, and then introduce our guest speaker Dr Slavé Petrovski, who has recently returned from Duke and Columbia in the US as part of his NHMRC CJ Martin Overseas Fellowship and will now complete the final 2 years of that fellowship based at the Melbourne Brain Centre (both Royal Pde and Heidelberg).
Friday August 28, 4:15pm, Harold Woodruff Lecture Theatre, Old Microbiology building, Royal Parade. To be followed by drink with speaker in a local bar/pub.
Next Generation Interpretation of Sequence Variants
Slavé Petrovski, Melbourne Brain Centre
Sequencing studies are generating large amounts of sequence data with no decline expected in the near future. Key to the success of NGS have been advances in properly interpreting the plethora of genetic variation generated per individual. With the generation of large exome reference cohorts, a recently emerging concept has been to establish frameworks to identify the typical patterns of variation in human populations that then enable us to appreciate atypical variation. This talk hopes to illustrate how we can take advantage of bioinformatics signatures from empirical sequence data and apply them in real world patient settings.
Specifically, the three areas I think might be interesting to discuss for this seminar are:
a) The N-of-One paradigm: How to appropriately interpret what is relevant in an individual patient
b) The case-control paradigm: How to use statistical rigour to securely implicate novel gene-phenotype associations
c) Beyond the protein-coding sequence: How to use patterns of standing variation in the noncoding sequence to interpret noncoding mutations.