MPCCC Tech Talk – Dr Vanessa Siva Kumar

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Dr Vanessa Siva Kumar will present on the topic ‘Strategies and challenges in clinical data curation’

Genomic testing has been integral to progress in precision medicine in recent years. The increasing affordability and advancement of genomic sequencing technologies have driven therapeutic approaches based on genetic variants and specific biomarkers, particularly in oncology.

Large-scale datasets generated from next-generation sequencing require the application of various strategies to enable identification of potential clinical targets. The approach is evidence-driven, with the ultimate aim of providing a comprehensive assessment of tumour markers allowing improved therapy selection and enhanced patient care. This talk will focus on the principles in the analysis and interpretation of genomic variants, with an overview of the challenges in delivering this aim.

 

About the speaker

Dr Vanessa Siva Kumar is the Genomics Curation Lead at Monash Health. She oversees clinical data interpretation of somatic and germline variants from genomic testing, including oncology panels and exome sequencing in rare disease. She is an experienced medical scientist, involved in diagnostic and cascade testing for a range of childhood and adult conditions for many years, and more recently was a senior variant curator at Victorian Clinical Genetics Services. Vanessa completed her PhD in molecular genetics at the University of Melbourne, focusing on assay development and mutation studies, followed by postdoctoral research in inflammation. She received her MHGSA in diagnostic genomics in 2018.

 

Event details

Friday 18 September, 1-2pm

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Join link: https://monash.zoom.us/j/98604182946?pwd=Nk9BRlM3TjlzaUhUMUR1V2pPWTZmUT09

Meeting ID: 986 0418 2946

Password: 150055