Joseph Powell

I am the Head of the Garvan-Weizmann Centre for Cellular Genomics, a Lab Head at Garvan Institute for Medical Research, and a Principal Research Fellow in the Faculty of Medicine, University of New South Wales. I obtained his PhD from the University of Edinburgh, in 2010. Throughout my PhD I was a m
Lab Head - Single Cell and Computational Genomics; Head of Garvan-Weizmann Centre for Cellular Genomics

Conjoint/Adjunct Role(s)

Head | Garvan-Weizmann Centre for Cellular Genomics

I am the Head of the Garvan-Weizmann Centre for Cellular Genomics, a Lab Head at Garvan Institute for Medical Research, and a Principal Research Fellow in the Faculty of Medicine, University of New South Wales. I obtained his PhD from the University of Edinburgh, in 2010. Throughout my PhD I was a member of the scientific advisory board at Aviagen. Following my PhD I moved to Professor Peter Visscher’s (FRS, FAA) group at QIMR, and then the University of Queensland. During this time, I helped form and lead an international consortium to study the genetic control of gene expression, the Consortium for the Architecture of Gene Expression (CAGE). In 2015, I started my own group at the Institute for Molecular Bioscience, where we pioneered the use of single cell sequencing methods to understand the genetic control of disease, and cell development. I am also a founding director of SeqBio, a company developing new diagnostic technology for lung diseases using liquid biopsies and single cell sequencing.

The Single Cell and Computational Genomics Laboratory focuses on demonstrating the genomic mechanisms by which loci contribute to complex human diseases, and working towards early stage diagnosis methods and targeted therapeutics. To do so, we apply existing computational approaches, and develop our own statistical genetics methods for analysis of large-scale next generation sequencing data. Following in silico experiments, we perform functional validation of statistical observations using molecular techniques such as high-throughput genome editing and cell phenotyping. We have a very significant focus on the use of single cell sequence data and technology, due to the phenomenal resolution it offers in being able to identify differences in the genomics processes between individual cells. The laboratory drives projects in a number of areas of medical genomics research, but we also believe strongly in the value of collaboration between groups with differing expertise.

Research Interests

Statistical genetics
Cellular genomics
Complex trait genetics
Machine Learning
Population genetics

Awards and Honours

2016-2019 NHMRC Career Development Fellowship
2016 Commonwealth Health Minister’s Medal for Excellence in Medical Research
2015 NHMRC Research Excellence Award
2015 NHMRC Highest ranked fellowship application
2015 UQ Foundation Research Excellence Award
2014 ASMR Postdoctoral Prize
2013-2015 ARC DECRA Fellowship
2010 Munro Fox Medal for Excellence in Biological research
2009 European Animal and Disease Genomics Network of Excellence Award
2006-2010 Biotechnology and Biological Sciences Research Council PhD Fellowship
2005-2006 Wellcome Trust MSc Fellowship


2010 - Ph.D University of Edinburgh, UK
2006 - MSc University of Edinburgh, UK

Selected Publications

  1. Freidman C, Nguyen Q, Lukowski S, Helfer A, Chiu H, Voges H, Suo S, Han J, Osteil P, Peng G, Jing N, Murry C, Wong E, Ding J, Bar-Joseph Z, Wang Y, Hudson J, Tam P, Powell J*, Palpant N*. *Joint senior. Cardiac-directed differential using small molecule Wnt modulation at single cell resolution. Cell Stem Cell, Accepted.
  2. Nguyen Q, Lukowski S, Chiu H, Senabouth A, Bruxner T, Christ A, Palpant N, Powell J. Single-cell transcriptome sequencing of 18,787 human induced pluripotent stem cells identifies differentially primed subpopulations. Genome Research, (2018)
  3. Lukowski S, Tuong K, Noske K, Senabouth A, Nguyen Q, Soyer P, Frazer I, Powell J. Detection of HPV E7 transcription at single cell resolution in epidermis. Journal of Investigative Dermatology, (2018)
  4. Yap C, Lloyd-Jones L, Holloway A, Smartt P, Wray N, Gratten J, Powell J. Independent trans-eQTL identified in whole blood have limited influence on complex disease biology. European Journal of Human Genetics, (2018)
  5. Lukowski S, [16], Powell J. Genetic correlations reveal the shared genetic architecture of transcription in human peripheral blood. Nature Communications, 8, 483-492 (2017).
  6. Lloyd-Jones L, [14], Powell J. The genetic architecture of gene expression in peripheral blood. American Journal of Human Genetics, 100, 228-237 (2017)
  7. Powell J, [17], Montgomery. Endometriosis risk alleles at 1p36.12 act through inverse regulation of CDC42 and LINC00339. Human Molecular Genomics, 25, 5054-5058 (2016)
  8. Hemani G, Shakhbazov K, Westra H, Esko, T, Henders A, McRae A, Yang J, Gibson G, Martin N, Metspalu A, Franke L, Montgomery G, Visscher P, Powell J. Detection and replication of epistasis influencing transcription in humans. Nature, 508, 249-253 (2014)
  9. Powell J, Henders A, McRae A, Kim J, Hemani G, Martin N, Dermitzakis M, Gibson G, Montgomery G, Visscher P. Congruence of additive and non-additive effects on gene expression estimated from pedigree and SNP data. PLoS Genetics, 9, e1003502
  10. Westra H, [6], Powell J, [46], Franke L. Systematic identification of trans eQTLs as putative drivers of known disease associations Nature Genetics, 45, 1238-43 (2013)
  11. Powell J, Henders A, McRae A, Wright M, Martin N, Dermitzakis E, Montgomery G, Visscher P. Genetic control of gene expression in whole blood and lymphoblastoid cell lines is largely independent. Genome Research, 22, 456-66
  12. Powell J, Henders, McRae, Caracella A, Smith S, Wright M, Whitfield J, Martin N, Dermitzakis E, Visscher P, Montgomery G. The Brisbane Systems Genetics Study: Genetical genomics meets complex trait genetics PLoS One, 7, e35430
  13. Yang J, Loos R, Powell J, [122], Visscher P. FTO genotype is associated with phenotypic variability of body mass index. Nature, 490, 267-72 (2012)
  14. Powell J*, McEvoy B*, Goddard M, Visscher P. *Joint first. Human population dispersal “out of Africa” estimated from linkage disequilibrium and allele frequencies of SNPs. Genome Research, 21, 821-829 (2011)
  15. Powell J, Visscher P, Goddard M. Reconciling the analysis of IBD and IBS in complex trait studies. Nature Reviews Genetics, 11, 800-805 (2010)