Determining the geographic origin of pathogenic human mutations

Determining the geographic origin of pathogenic human mutations

Project details

The Bahlo lab has identified more than 20 mutations that cause human disease. Some mutations are founder mutations, originating from a particular ethnic group and/or geographic area, based on historical data. 

In this project we wish to develop methods to identify where (geographically) these mutations arose, making use of probabilistic methods for genetic data. Identity-by-descent (IBD) mapping (Henden et al, Bioinformatics, 2016) and chromosomal painting (Lawson et al, PLoS Genet, 2012) approaches will be applied. 

A large-scale genomic data from Europe will be used to infer geographic origin of several mutations identified in previous studies. This work could identify populations for screening for particular mutations.

This project suits a student interested in applied probability and genetics.


About our research group

The Bahlo lab is located in the Institute's Population Health and Immunity division. The lab’s work is focused on the development and application of statistical genetics methods to provide practical solutions for interesting genetic problems. 

This project will be co-supervised by Associate Professor Stephen Leslie, Center of Computational Biology, Schools of Mathematics and Statistics, and Biosciences, University of Melbourne, who is an expert in population structure analysis (Leslie et al, Nature 2015).



Professor Melanie Bahlo

Melanie Bahlo
Joint Division Head
Associate Professor Stephen Leslie profile shot
Associate Professor
Centre for Systems Genomics, University of Melbourne

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