Dr Peter Humburg

Bioinformatics Research Officer

Peter received undergraduate training in Bioinformatics at Freie Universität Berlin and Australian National University before completing a PhD in Statistics at Macquarie University in 2010. His main interest is in gaining a better understanding of the genomic foundations of disease, especially autoimmune disease. He pursues this endeavour by applying his statistical and computational expertise to the analysis of genomic datasets.

Following the completion of his PhD, Peter moved to Oxford to work in Peter Donelly’s lab at the Wellcome Trust Centre for Human Genetics to study rare genetic variation and associated disease risk. Focusing his efforts on the genetics of the immune system Peter joined Julian Knight’s lab, where he developed computational and statistical methods to leverage functional genomics data to uncover genetic variation that drives differences in immune response between individuals.

He has now returned to Sydney to work in Chris Goodnow’s lab at Garvan, where he develops novel methods to uncover the role of rare somatic variation in autoimmune disease.

Research Interests

Rare genomic variation
Disease genomics
Variant annotation
Functional genomics


2010 – PhD (Statistics), Macquarie University, Australia
2005 – BSc First Class Honours (Computational Science), Australian National University, Australia
2004 – BSc (Bioinformatics), Freie Universität Berlin, Germany

Selected Publications

Sabouri Z, Perotti S, Spierings E, Humburg P, Yabas M, Bergmann H, Horikawa K, Roots C, Lambe S, Young C, Andrews TD, Field M, Enders A, Reed JH, Goodnow CC. IgD attenuates the IgM-induced anergy response in transitional and mature B cells. Nat Comm 2016; 7:13381

Humburg P, Maugeri N, Lee W, Mohr B, Knight JC. Characterisation of the global transcriptional response to heat shock and the impact of individual genetic variation. Gen Med 2016; 8:87

Davenport EE, Burnham KL, Radhakrishnan J, Humburg P, Hutton P, Mills TC, Rautanen A, Gordon AC, Garrard C, Hill AVS, Hinds CJ, Knight JC. Genomic landscape of the individual host response and outcomes in sepsis: a prospective cohort study. Lancet Resp Med 2016; 4:259-271

McCarthy DJ, Humburg P, Kanapin A, Rivas MA, Gaulton K, Cazier JB, and Donnelly P. Choice of transcripts and software has a large effect on variant annotation. Gen Med 2014; 6:26

Fairfax BP, Humburg P, Makino S, Naranbhai V, Wong D, Lau E, Jostins L, Plant K, Andrews R, McGee C, Knight JC. Innate Immune Activity Conditions the Effect of Regulatory Variants upon Monocyte Gene Expression. Science 2014. 343:1246949 

Ruark E*, Snape K*, Humburg P*, Loveday C, Bajrami I, Brough R, Rodrigues DN, Renwick A, Seal S, Ramsay E, Del Vecchio Duarte S, Rivas MA, Warren-Perry M, Zachariou A, Campion-Flora A, Hanks S, Murray A, Pour NA, Douglas J, Gregory L, Rimmer A, Walker NM, Yang TP, Adlard JW, Barwell J, Berg J, Brady AF, Brewer C, Brice G, Chapman C, Cook J, Davidson R, Donaldson A, Douglas F, Eccles D, Evans DG, Greenhalgh L, Henderson A, Izatt L, Kumar A, Lalloo F, Miedzybrodzka Z, Morrison PJ, Paterson J, Porteous M, Rogers MT Shanley S, Walker L, Gore M, Houlston R, Brown MA, Caufield MJ, Deloukas P, McCarthy MI, Todd JA, BOCS, WTCCC, Turnbull C, Reis-Filho JS, Ashworth A, Antoniou AC, Lord CJ, Donnelly P, Rahman N. Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer. Nature 2013; 493:406-410 *contributed equally

Dr Peter Humburg