Analysis of short tandem repeat markers from whole genome sequencing

Analysis of short tandem repeat markers from whole genome sequencing

Project details

Short tandem repeats (STRs) are highly repetitive regions of the human genome with motifs of 2- 6 bps. Several thousand are present in the human sequence and >20 cause known human neurological diseases by having expanded significantly, changing the protein product. STRs can be assayed with whole genome sequencing. 

This project will continue previous work in the lab (see Tankard et al, BioRxiv 2017), looking for de novo repeat expansion as well as looking at the impact of repeat expansions in a variety of settings, but particularly their relevance to neurological disorders.

About our research group

The Bahlo lab is a bioinformatics lab located in the Population Health and Immunity division, consisting of 12 staff and students, including two PhD students and one Masters student.

We have a strong interest in statistical and population genomics and transcriptomics with a concurrent interest in relevant statistical methods, working in close collaboration with a variety of genetic and clinical collaborators, both in malaria and neurological diseases.

This project will be based in the Bahlo lab, but will involve close collaboration with two local collaborators, generating data from patients with neurological disorders where STRs may play a role. The project requires a strong interest in genetics with good programming skills. It would suit a student with a major in a quantitative discipline and a minor in genetics with an interest in human diseases of the brain.


Professor Melanie Bahlo

Melanie Bahlo
Joint Division Head

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