Research Interests

My background in ecology and evolution has strongly influenced my research interests. The broad questions on processes and interactions within evolutionary systems are what interest me most. Modern high-throughput sequencing is an excellent tool to explore natural variation since it provides unparalleled resolution into the evolutionary process. While my undergraduate studies focused on organismal evolution and ecology, my postgraduate studies sparked my interest in investigating the evolutionary process on a microscopic scale. My postgraduate experience has provided me insight into evolution within an organism when looking at the genesis and evolution of cancer within a patient.

My research interests are now also underpinned by my enjoyment for writing software and creating tools for others to use. This has involved the sole development of, and contribution to, many internal and external pipelines, tools and platforms within the field of bioinformatics.


AU2016903841 & US20190267114A1. Gayevskiy, V. & Cowley, M.J (2017-ongoing). Device for presenting sequencing data. Google Patents: Link | PDF

Publications (* Indicates first authorship)

Weeden, C.E. & Gayevskiy, V. et al (2023) Early immune pressure initiated by tissue-resident memory T cells sculpts tumor evolution in non-small cell lung cancer. Cancer Cell, 41 (5), pp. 837-852. DOI: 10.1016/j.ccell.2023.03.019 | PDF

Sullivan, P.J. & Gayevskiy, V. et al (2023) Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications. Genome Biology, 24 (118), pp. 1-18. DOI: 10.1186/s13059-023-02936-7 | PDF

Leong, T.L. & … & Gayevskiy, V. et al (2023) Heterogeneity of tumour mutational burden in metastatic NSCLC demonstrated by endobronchial ultrasound sampling. Frontiers in Oncology, 13, pp. 1150349. DOI: 10.3389/fonc.2023.1150349 | PDF

Davis, R.L. & … & Gayevskiy, V. et al (2022) Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis. Neurology, 99 (7), pp. e730-e742. DOI: 10.1212/WNL.0000000000200745 | PDF

Rius, R. & … & Gayevskiy, V. et al (2022) Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy. Human Mutation. DOI: 10.1002/humu.24453 | PDF

Ewans, L.J. & … & Gayevskiy, V. et al (2022) Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis. European Journal of Human Genetics. DOI: 10.1038/s41431-022-01162-2 | PDF

Palmer, E.E. & … & Gayevskiy, V. et al (2021) Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies. Neurology, 96 (13), pp. e1770-e1782. DOI: 10.1212/WNL.0000000000011655 | PDF

Mallawaarachchi, A.C. & … & Gayevskiy, V. et al (2021) Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing. European Journal of Human Genetics, 29, pp. 760-770. DOI: 10.1038/s41431-020-00796-4 | PDF

Wong, M. & … & Gayevskiy, V. et al (2020) Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk pediatric cancer. Nature Medicine, 26, pp. 1742–1753. DOI: 10.1038/s41591-020-1072-4 | PDF

Sullivan, P. & … & Gayevskiy, V. et al (2020) Introme identifies non-canonical splice-altering variants in neuromuscular patients resulting in multiple new genetic diagnoses. Neuromuscular Disorders, 30, pp. S144. DOI: 10.1016/j.nmd.2020.08.330 | PDF

Riley, L.G. & … & Gayevskiy, V. et al (2020) The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease. Genetics in Medicine, 22, pp. 1254–1261. DOI: 10.1038/s41436-020-0793-6 | PDF

* Leong, T.L. & Gayevskiy, V. et al (2019). Deep multi-region whole-genome sequencing reveals heterogeneity and gene-by-environment interactions in treatment-naive, metastatic lung cancer. Oncogene, 38, pp. 1661-1675. DOI: 10.1038/s41388-018-0536-1 | PDF

McCabe, M.J. & … & Gayevskiy, V. et al (2019) Development and validation of a targeted gene sequencing panel for application to disparate cancers. Scientific Reports, 9, 17052. DOI: 10.1038/s41598-019-52000-3 | PDF

Kumar, K.R. & … & Gayevskiy, V. et al (2019) Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes. Parkinsonism and Related Disorders, 69, pp. 111-118. DOI: 10.1016/j.parkreldis.2019.11.004 | PDF

Cowley, M.J. & … & Gayevskiy, V. et al (2019) Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection. Human Mutation, 40 (4), pp. 374-379. DOI: 10.1002/humu.23699 | PDF

Palmer, E.E. & … & Gayevskiy, V. et al (2019) De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome. The American Journal of Human Genetics, 104 (3), pp. 542-552. DOI: 10.1016/j.ajhg.2019.01.013 | PDF

McCabe, M.J. & … & Gayevskiy, V. et al (2019) Genomic stratification and liquid biopsy in a rare adrenocortical carcinoma (ACC) case, with dual lung metastases. Cold Spring Harbor Molecular Case Studies, 5: a003764. DOI: 10.1101/mcs.a003764 | PDF

Mueller, S.A. & … & Gayevskiy, V. et al (2019) Mutational Patterns in Metastatic Cutaneous Squamous Cell Carcinoma. Journal of Investigative Dermatology, 139 (7), pp. 1449-1458.e1. DOI: 10.1016/j.jid.2019.01.008 | PDF

Kim, A. & … & Gayevskiy, V. et al (2019) Increased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome Sequencing. The Cerebellum, 18 (4), pp. 781-790. DOI: 10.1007/s12311-019-01038-0 | PDF

Zammit, N.W. & … & Gayevskiy, V. et al (2019). Denisovan, modern human and mouse TNFAIP3 alleles tune A20 phosphorylation and immunity. Nature Immunology, 20, pp. 1299-1310. DOI: 10.1038/s41590-019-0492-0 | PDF

Rius, R. & … & Gayevskiy, V. et al (2019) Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child. Molecular Genetics and Metabolism, 136 (1), pp. 77-82. DOI: 10.1016/j.ymgme.2018.12.002 | PDF

Minoche, A.E. & … & Gayevskiy, V. et al (2019). Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy. Genetics in Medicine, 21, pp. 650-662. DOI: 10.1038/s41436-018-0084-7 | PDF

Kirk, E.P. & … & Gayevskiy, V. et al (2019). Beyond the panel: preconception screening in consanguineous couples using the TruSight One "clinical exome". Genetics in Medicine, 21, pp. 608-612. DOI: 10.1038/s41436-018-0082-9 | PDF

* Gayevskiy, V. & Roscioli, T. & Dinger, M.E. & Cowley, M.J. (2019). Seave: a comprehensive web platform for storing and interrogating human genomic variation. Bioinformatics, 35 (1), pp. 122-125. DOI: 10.1093/bioinformatics/bty540 | PDF | GitHub

Tsoli M. & … & Gayevskiy V. et al (2018). Integration of genomics, high throughput drug screening, and personalized xenograft models as a novel precision medicine paradigm for high risk pediatric cancer. Cancer Biology & Therapy, 19 (12), pp. 1078-1087. DOI: 10.1080/15384047.2018.1491498 | PDF

Barnet M. & … & Gayevskiy V. et al (2018). Exploring the Germ-Line Contribution to Exceptional Response to PD-1/PD-L1 Inhibition in Patients with NSCLC by Whole Genome Sequencing. Journal of Thoracic Oncology, 13 (10), pp. S529. DOI: 10.1016/j.jtho.2018.08.726 | PDF

Ziegler, D.S. & … & Gayevskiy, V. et al (2018). Brief Report: Potent clinical and radiological response to larotrectinib in TRK fusion-driven high-grade glioma. British Journal of Cancer, 119, pp. 693-696. DOI: 10.1038/s41416-018-0251-2 | PDF

Kumar, K. & … & Gayevskiy, V. et al (2018). Expanding the spectrum of PEX16 mutations and novel insights into disease mechanisms. Molecular Genetics and Metabolism Reports, 16, pp. 46-51. DOI: 10.1016/j.ymgmr.2018.07.003 | PDF

Ewans, L.J. & … & Gayevskiy, V. et al (2018). Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders. Genetics in Medicine, 20, pp. 1564–1574. DOI: 10.1038/gim.2018.39 | PDF

De Sousa, S.M. & … & Gayevskiy, V. et al (2017). Germline variants in familial pituitary tumour syndrome genes are common in young patients and families with additional endocrine tumours. European Journal of Endocrinology, 176 (5), pp. 635-644. DOI: 10.1530/EJE-16-0944 | PDF

Balasubramaniam, S. & … & Gayevskiy, V. et al (2017). EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders. JIMD Reports. DOI: 10.1007/8904_2017_71 | PDF

Balasubramaniam, S. & … & Gayevskiy, V. et al (2017). Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency. Journal of Inherited Metabolic Disease, 40 (5), pp. 745-747. DOI: 10.1007/s10545-017-0036-4 | PDF

Riley, L.R. & … & Gayevskiy, V. et al (2017). A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders. Journal of Inherited Metabolic Disease, 40 (2), pp. 261-269. DOI: 10.1007/s10545-016-0010-6 | PDF

Heimer, G. & … & Gayevskiy, V. et al (2016). MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder. The American Journal for Human Genetics, 99 (6), pp. 1229-1244. DOI: 10.1016/j.ajhg.2016.09.021 | PDF

* Gayevskiy, V. & Lee, S. & Goddard, M.R. (2016). European derived Saccharomyces cerevisiae colonisation of New Zealand vineyards aided by humans. FEMS Yeast Research, 16 (7), fow091. DOI: 10.1093/femsyr/fow091 | PDF

Kumar, K.R. & … & Gayevskiy, V. et al (2016). Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing. Neurogenetics, 17, pp. 265-270. DOI: 10.1007/s10048-016-0495-z | PDF

Merlevede, J. & … & Gayevskiy, V. et al (2016) Mutation allele burden remains unchanged in chronic myelomonocytic leukaemia responding to hypomethylating agents. Nature Communications, 7:10767 DOI: 10.1038/ncomms10767 | PDF

* Gayevskiy, V. & Goddard, M.R. (2016) Saccharomyces eubayanus and Saccharomyces arboricola reside in North Island native New Zealand forests. Environmental Microbiology, 18 (4), pp. 1137-1147. DOI: 10.1111/1462-2920.13107 | PDF

Rogers, S. & … & Gayevskiy, V. et al (2015). Dataset from the global phosphoproteomic mapping of early mitotic exit in human cells. Data in Brief, 5, pp. 45-52. DOI: 10.1016/j.dib.2015.08.010 | PDF

McCloy, R. & … & Gayevskiy, V. et al (2015). Global Phosphoproteomic Mapping of Early Mitotic Exit in Human Cells Identifies Novel Substrate Dephosphorylation Motifs. Molecular and Cellular Proteomics, 14 (8), pp. 2194-2212. DOI: 10.1074/mcp.M114.046938 | PDF

* Gayevskiy V. & Klaere S. & Knight S. & Goddard M.R. (2014) ObStruct: A Method to Objectively Analyse Factors Driving Population Structure Using Bayesian Ancestry Profiles. PLoS ONE, 9 (1): e85196. DOI: 10.1371/journal.pone.0085196 | PDF

* Gayevskiy, V. & Goddard, M.R. (2012). Geographic delineations of yeast communities and populations associated with vines and wines in New Zealand. The ISME Journal, 6 (7), pp. 1281-1290. DOI: 10.1038/ismej.2011.195 | PDF


2016 - AGTA Conference Poster

2015 - AGTA Conference Poster

2014 - NZMEC Symposium Talk

2014 - NZ Phylogenomics Meeting Talk

2011 - Romeo Bragato Conference Talk

2010 - New Zealand Microbiological Society (NZMS) Conference Talk


2017 - Taught the sections on cancer genomics, bioinformatics for clinicians, introduction to Seave and copy number/structural variants at the Clinical Genomics Workshop hosted by the Kinghorn Centre for Clinical Genomics in Hong Kong. Ran two practical workshop sessions on using Seave to diagnose patients with rare disease and validate variants using IGV.

2016 - Taught the copy number variation and variant filtration sections of the Cancer Genomics Workshop hosted by BioPlatforms Australia in Melbourne.

2015 - Taught the copy number variation and variant filtration sections of the Cancer Genomics Workshop hosted by BioPlatforms Australia in Canberra.

2015 - Short talk on Seave at the Clinical Genomics workshop hosted at the Kinghorn Centre for Clinical Genomics.