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.
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Appointments
Date Position Institution name 2023 - ongoing Interim Program Leader, Computational Systems Oncology University of Adelaide 2023 - ongoing Head, Data Science Unit University of Adelaide 2020 - 2023 Computational Scientist Jackson Laboratory 2017 - 2019 Population Infomaticist Mount Sinai Hospital 2013 - 2017 Senior Bioinformatics Scientist, Statistical Genetics & Genetic Epidemiology New York Genome Center 2011 - 2013 Research Fellow Harvard Medical School 2011 - 2013 Research Fellow Massachusetts General Hospital 2009 - 2011 Genetics Research Fellow Singapore Eye Research Institute 2008 - 2019 Postdoctoral Research Fellow University of Hong Kong -
Language Competencies
Language Competency English Can read, write, speak, understand spoken and peer review -
Education
Date Institution name Country Title 2004 - 2007 University of Queensland Australia PhD 2000 - 2002 University of Queensland Australia Bachelor of Arts 1998 - 2003 University of Queensland Australia Bachelor of Science (Honours Class I) -
Research Interests
Bioinformatics Bioinformatics and computational biology Translational and applied bioinformatics Genetics Genetics & Heredity Medical Genetics Quantitative Genetics Statistical and quantitative genetics Computational statistics Data mining and knowledge discovery Statistical data science Epidemiological modelling Machine learning Biological Sciences Systems Biology Gene expression (incl. microarray and other genome-wide approaches) Gene mapping Cancer Genetics Genome Structure and Regulation Epigenetics (incl. genome methylation and epigenomics) Cancer Biology and Clinical Oncology Nutrition and Metabolic Health Cardiac, Respiratory and Vascular Health Neuroscience, Behaviour and Brain Health
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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.
Scopus1 WoS1 Europe PMC12022 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.
Scopus70 WoS53 Europe PMC422016 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.
Scopus6 Europe PMC22015 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.
Scopus7 Europe PMC52015 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.
Scopus198 Europe PMC1722015 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.
Scopus62 WoS55 Europe PMC532014 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.
Scopus13 WoS13 Europe PMC112014 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.
Scopus133 Europe PMC1052014 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.
Scopus68 WoS56 Europe PMC352014 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.
Scopus54 Europe PMC402014 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.
Scopus10 Europe PMC62013 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.
Scopus661 Europe PMC4772013 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.
Scopus226 WoS229 Europe PMC1802013 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.
Scopus104 WoS100 Europe PMC712013 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.
Scopus872 WoS825 Europe PMC7252012 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.
Scopus18 Europe PMC122012 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.
Scopus177 Europe PMC952012 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.
Scopus92012 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.
Scopus46 Europe PMC412011 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.
Scopus37 Europe PMC302011 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.
Scopus21 Europe PMC182011 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.
Scopus77 Europe PMC572011 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.
Scopus124 Europe PMC1042011 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.
Scopus35 Europe PMC232010 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.
Scopus19 Europe PMC132009 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.
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.
Scopus19 Europe PMC152009 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.
Scopus51 Europe PMC342008 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.
Scopus51 Europe PMC382008 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.
Scopus11 Europe PMC72007 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.
Scopus32 Europe PMC262006 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.
Scopus217 Europe PMC1292006 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.
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.
Scopus428 Europe PMC3112006 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.
Scopus116 Europe PMC942005 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.
Scopus40 Europe PMC352003 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.
Scopus480 Europe PMC3282003 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.
Scopus260 Europe PMC181
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