Dr Belinda Cornes

Head, Data Science Unit

South Australian Immunogenomics Cancer Institute

Faculty of Health and Medical Sciences

Eligible to supervise Masters and PhD - email supervisor to discuss availability.


I use quantitative approaches to unravel the genetic factors that underlie complex disease susceptibility. I develop and apply computational and statistical methods to integrated large scale ‘omics data to provide further insights into the genetic pathways involved in the risk of disease.

I received my PhD in genetic epidemiology from the School of Medicine, University of Queensland, Australia, researching the genetic and environmental influences of obesity in Australian twin families. I completed post-doctoral positions at the University of Hong Kong working on founder mutations in Hirschsprung’s Disease in Han Chinese, and at the Singapore Eye Research Institute where I investigated the genetic variants linked to age-related macular degeneration and the role of endophenotypes in glaucoma in the three major ethnic groups in Singapore – Malay, Indian and Chinese. As a researcher at the Massachusetts General Hospital, I used exome chip and targeted sequencing data from related and unrelated individuals to identify novel genetic variants responsible for Type 2 Diabetes through their association with related quantitative phenotypes.

At the New York Genome Center, I was a senior bioinformatics scientist in genetic epidemiology and statistical genetics responsible for ensuring the integrity as well as the analysis and interpretation of pedigree-based data. I also provided lead support to several large ongoing projects which used sequencing and chip data to more precisely localise and characterise genes underlying previously identified variants in diverse ethnicities and races including African Americans, Puerto Ricans and Europeans. I was eventually recruited as a population informaticist and team lead at Sema4, building out the molecular ancestry calculation pipeline for the expanded carrier test using new genotype technologies, including low pass whole genome sequencing.

Before returning home to Adelaide, I spent 3 years at The Jackson Laboratory, where I continued to provide data & statistical analysis expertise to academic groups and students using gene expression, single cell, mouse and human genetic data as well as contributing to the creation, maintenance, implementation of in-house databases and pipelines in addition to creating and building carpentry-style courses for the analysis of various types of ‘omics data.

  • Journals

    Year Citation
    2023 Cornes, B. K., Paisie, C., Swanzey, E., Fields, P. D., Schile, A., Brackett, K., . . . Srivastava, A. (2023). Protein coding variation in the J:ARC and J:DO outbred laboratory mouse stocks provides a molecular basis for distinct research applications. G3: Genes, Genomes, Genetics, 13(4), 11 pages.
    DOI Scopus1 WoS1 Europe PMC1
    2022 Dohnalová, L., Lundgren, P., Carty, J. R. E., Goldstein, N., Wenski, S. L., Nanudorn, P., . . . Thaiss, C. A. (2022). A microbiome-dependent gut–brain pathway regulates motivation for exercise. Nature, 612(7941), 739-747.
    DOI Scopus68 WoS53 Europe PMC41
    2016 Willems, S. M., Cornes, B. K., Brody, J. A., Morrison, A. C., Lipovich, L., Dauriz, M., . . . Meigs, J. B. (2016). Association of the IGF1 gene with fasting insulin levels. European Journal of Human Genetics, 24(9), 1337-1343.
    DOI Scopus6 Europe PMC2
    2015 Kim, Y. J., Lee, J., Kim, B. J., Park, T., Abecasis, G., Almeida, M., . . . Seielstad, M. (2015). A new strategy for enhancing imputation quality of rare variants from next-generation sequencing data via combining SNP and exome chip data. BMC Genomics, 16(1), 1109.
    DOI Scopus7 Europe PMC5
    2015 Wang, A. T., Kim, T., Wagner, J. E., Conti, B. A., Lach, F. P., Huang, A. L., . . . Smogorzewska, A. (2015). A Dominant Mutation in Human RAD51 Reveals Its Function in DNA Interstrand Crosslink Repair Independent of Homologous Recombination. Molecular Cell, 59(3), 478-490.
    DOI Scopus196 Europe PMC169
    2015 Glubb, D. M., Maranian, M. J., Michailidou, K., Pooley, K. A., Meyer, K. B., Kar, S., . . . Barile, M. (2015). Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1. American Journal of Human Genetics, 96(1), 5-20.
    DOI Scopus62 WoS55 Europe PMC53
    2014 Johnson, N., Dudbridge, F., Orr, N., Gibson, L., Jones, M. E., Schoemaker, M. J., . . . Soucy, P. (2014). Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: A case-control study. Breast Cancer Research, 16(1), 13 pages.
    DOI Scopus13 WoS13 Europe PMC11
    2014 Majithia, A. R., Flannick, J., Shahinian, P., Guo, M., Bray, M. A., Fontanillas, P., . . . García-Ortíz, H. (2014). Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes. Proceedings of the National Academy of Sciences of the United States of America, 111(36), 13127-13132.
    DOI Scopus133 Europe PMC105
    2014 Nongpiur, M. E., Khor, C. C., Jia, H., Cornes, B. K., Chen, L. J., Qiao, C., . . . Aung, T. (2014). ABCC5, a Gene That Influences the Anterior Chamber Depth, Is Associated with Primary Angle Closure Glaucoma. PLoS Genetics, 10(3), 8 pages.
    DOI Scopus68 WoS56 Europe PMC35
    2014 Restrepo, N. A., Spencer, K. L., Goodloe, R., Garrett, T. A., Heiss, G., Bůžková, P., . . . Crawford, D. C. (2014). Genetic determinants of age-related macular degeneration in diverse populations from the PAGE study. Investigative ophthalmology & visual science, 55(10), 6839-6850.
    DOI Scopus54 Europe PMC40
    2014 Cornes, B. K., Brody, J. A., Nikpoor, N., Morrison, A. C., Dang, H. C. P., Ahn, B. S., . . . Meigs, J. B. (2014). Association of levels of fasting glucose and insulin with rare variants at the chromosome 11p11.2-madd locus cohorts for heart and aging research in genomic epidemiology (charge) consortium targeted sequencing study. Circulation: Cardiovascular Genetics, 7(3), 374-382.
    DOI Scopus10 Europe PMC6
    2013 Fritsche, L. G., Chen, W., Schu, M., Yaspan, B. L., Yu, Y., Thorleifsson, G., . . . Ryu, E. (2013). Seven new loci associated with age-related macular degeneration. Nature Genetics, 45(4), 433-439.
    DOI Scopus660 Europe PMC477
    2013 Lu, Y., Vitart, V., Burdon, K. P., Khor, C. C., Bykhovskaya, Y., Mirshahi, A., . . . Wong, T. Y. (2013). Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. Nature Genetics, 45(2), 155-163.
    DOI Scopus226 WoS229 Europe PMC180
    2013 Holliday, E. G., Smith, A. V., Cornes, B. K., Buitendijk, G. H. S., Jensen, R. A., Sim, X., . . . Wang, J. J. (2013). Insights into the Genetic Architecture of Early Stage Age-Related Macular Degeneration: A Genome-Wide Association Study Meta-Analysis. PLoS ONE, 8(1), 12 pages.
    DOI Scopus104 WoS100 Europe PMC71
    2013 Michailidou, K., Hall, P., Gonzalez-Neira, A., Ghoussaini, M., Dennis, J., Milne, R. L., . . . Henderson, B. E. (2013). Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nature Genetics, 45(4), 353-361.
    DOI Scopus872 WoS825 Europe PMC725
    2012 Nakata, I., Yamashiro, K., Akagi-Kurashige, Y., Miyake, M., Kumagai, K., Tsujikawa, A., . . . Yoshimura, N. (2012). Association of genetic variants on 8p21 and 4q12 with age-related macular degeneration in Asian populations. Investigative Ophthalmology and Visual Science, 53(10), 6576-6581.
    DOI Scopus18 Europe PMC12
    2012 Vithana, E. N., Khor, C. C., Qiao, C., Nongpiur, M. E., George, R., Chen, L. J., . . . Aung, T. (2012). Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma. Nature Genetics, 44(10), 1142-1146.
    DOI Scopus177 Europe PMC95
    2012 Cornes, B. K., Khor, C. C., Nongpiur, M. E., Xu, L., Tay, W. T., Zheng, Y., . . . Aung, T. (2012). Identification of four novel variants that influence central corneal thickness in multi-ethnic Asian populations. Human Molecular Genetics, 21(19), 4365.
    DOI Scopus9
    2012 Cornes, B. K., Khor, C. C., Nongpiur, M. E., Xu, L., Tay, W. T., Zheng, Y., . . . Aung, T. (2012). Identification of four novel variants that influence central corneal thickness in multi-ethnic Asian populations. Human Molecular Genetics, 21(2), 437-445.
    DOI Scopus46 Europe PMC41
    2011 Fan, Q., Zhou, X., Khor, C. C., Cheng, C. Y., Goh, L. K., Sim, X., . . . Saw, S. M. (2011). Genome-wide meta-analysis of five asian cohorts identifies pdgfra as a susceptibility locus for corneal astigmatism. PLoS Genetics, 7(12), e1002402.
    DOI Scopus37 Europe PMC30
    2011 So, M. T., LeonThomas, T. Y. Y., Cheng, G., TangClara, C. S. M., Miao, X. P., Cornes, B. K., . . . Garcia-Barcelo, M. M. (2011). RET mutational spectrum in Hirschsprung disease: Evaluation of 601 Chinese patients. PLoS ONE, 6(12), e28986.
    DOI Scopus21 Europe PMC18
    2011 Khor, C. C., Ramdas, W. D., Vithana, E. N., Cornes, B. K., Sim, X., Tay, W. T., . . . Aung, T. (2011). Genome-wide association studies in Asians confirm the involvement of ATOH7 and TGFBR3, and further identify CARD10 as a novel locus influencing optic discarea. Human Molecular Genetics, 20(9), 1864-1872.
    DOI Scopus77 Europe PMC57
    2011 Vithana, E. N., Aung, T., Khor, C. C., Cornes, B. K., Tay, W. T., Sim, X., . . . Wong, T. Y. (2011). Collagen-related genes influence the glaucoma risk factor, central corneal thickness. Human Molecular Genetics, 20(4), 649-658.
    DOI Scopus124 Europe PMC104
    2011 Vink, J. M., Boomsma, D. I., Medland, S. E., De Moor, M. H. M., Stubbe, J. H., Cornes, B. K., . . . De Geus, E. J. C. (2011). Variance components models for physical activity with age as modifier: A comparative twin study in seven countries. Twin Research and Human Genetics, 14(1), 25-34.
    DOI Scopus35 Europe PMC23
    2010 Cornes, B. K., Tang, C. S., Leon, T. Y. Y., Hui, K. J. W. S., So, M. T., Miao, X., . . . Garcia-Barcelo, M. M. (2010). Haplotype analysis reveals a possible founder effect of RET mutation R114H for Hirschsprung's disease in the Chinese population. PLoS ONE, 5(6), e10918.
    DOI Scopus19 Europe PMC13
    2009 Cornes, B. K., Medland, S. E., Lind, P. A., Nyholt, D. R., Montgomery, G. W., & Martin, N. G. (2009). Genetic variation in female BMI increases with number of children born but failure to replicate association between GNβ3 variants and increased BMI in parous females. Twin Research and Human Genetics, 12(3), 276-285.
    DOI
    2009 Kettunen, J., Perola, M., Martin, N. G., Cornes, B. K., Wilson, S. G., Montgomery, G. W., . . . Peltonen, L. (2009). Multicenter dizygotic twin cohort study confirms two linkage susceptibility loci for body mass index at 3q29 and 7q36 and identifies three further potential novel loci. International Journal of Obesity, 33(11), 1235-1242.
    DOI Scopus19 Europe PMC15
    2009 Cornes, B. K., Lind, P. A., Medland, S. E., Montgomery, G. W., Nyholt, D. R., & Martin, N. G. (2009). Replication of the association of common rs9939609 variant of FTO with increased BMI in an Australian adult twin population but no evidence for gene by environment (G x E) interaction. International Journal of Obesity, 33(1), 75-79.
    DOI Scopus51 Europe PMC34
    2008 Hur, Y. M., Kaprio, J., Iacono, W. G., Boomsma, D. I., McGue, M., Silventoinen, K., . . . Mitchell, K. (2008). Genetic influences on the difference in variability of height, weight and body mass index between Caucasian and East Asian adolescent twins. International Journal of Obesity, 32(10), 1455-1467.
    DOI Scopus51 Europe PMC38
    2008 Benyamin, B., Perola, M., Cornes, B. K., Madden, P. A. F., Palotie, A., Nyholt, D. R., . . . Visscher, P. M. (2008). Within-family outliers: Segregating alleles or environmental effects? A linkage analysis of height from 5815 sibling pairs. European Journal of Human Genetics, 16(4), 516-524.
    DOI Scopus11 Europe PMC7
    2007 Cornes, B. K., Zhu, G., & Martin, N. G. (2007). Sex differences in genetic variation in weight: A longitudinal study of body mass index in adolescent twins. Behavior Genetics, 37(5), 648-660.
    DOI Scopus32 Europe PMC26
    2006 Stubbe, J. H., Boomsma, D. I., Vink, J. M., Cornes, B. K., Martin, N. G., Skytthe, A., . . . de Geus, E. J. C. (2006). Genetic influences on exercise participation in 37.051 twin pairs from seven countries. PLoS ONE, 1(1), e22.
    DOI Scopus217 Europe PMC129
    2006 Cornes, B. K., Medland, S. E., Ferreira, M. A. R., Morley, K. I., Duffy, D. L., Heijmans, B. T., . . . Martin, N. G. (2006). Erratum: A sex-limited genome scan for body mass index in an unselected sample (Twin Research and Human Genetics (2005) 8, 6 (616-632)). Twin Research and Human Genetics, 9(3), ii.
    DOI
    2006 Visscher, P. M., Medland, S. E., Ferreira, M. A. R., Morley, K. I., Zhu, G., Cornes, B. K., . . . Martin, N. G. (2006). Assumption-free estimation of heritability from genome-wide identity-by-descent sharing between full siblings. PLoS Genetics, 2(3), 0316-0325.
    DOI Scopus427 Europe PMC311
    2006 Macgregor, S., Cornes, B. K., Martin, N. G., & Visscher, P. M. (2006). Bias, precision and heritability of self-reported and clinically measured height in Australian twins. Human Genetics, 120(4), 571-580.
    DOI Scopus116 Europe PMC94
    2005 Cornes, B. K., Medland, S. E., Ferreira, M. A. R., Morley, K. I., Duffy, D. L., Heijmans, B. T., . . . Martin, N. G. (2005). Sex-limited genome-wide linkage scan for body mass index in an unselected sample of 933 Australian twin families. Twin Research and Human Genetics, 8(6), 616-632.
    DOI Scopus40 Europe PMC35
    2003 Silventoinen, K., Sammalisto, S., Perola, M., Boomsma, D. I., Cornes, B. K., Davis, C., . . . Kaprio, J. (2003). Heritability of Adult Body Height: A Comparative Study of Twin Cohorts in Eight Countries. Twin Research, 6(5), 399-408.
    DOI Scopus480 Europe PMC325
    2003 Schousboe, K., Willemsen, G., Kyvik, K. O., Mortensen, J., Boomsma, D. I., Cornes, B. K., . . . Harris, J. R. (2003). Sex Differences in Heritability of BMI: A Comparative Study of Results from Twin Studies in Eight Countries. Twin Research, 6(5), 409-421.
    DOI Scopus260 Europe PMC181
  • Position: Head, Data Science Unit
  • Phone: 83133005
  • Email: belinda.cornes@adelaide.edu.au
  • Campus: West End Health Precinct
  • Building: AHMS - Adelaide Health and Medical Sciences, floor Ninth Floor
  • Org Unit: South Australian Immunogenomics Cancer Institute

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