Ep13 - How Do You Launch a Genetic Test?

Posted on Tuesday, Aug 11, 2020
In this episode, hosts, Dr. Sabah Kadri and Arshi Arora dive deep into the launch of a genetic test - what does it mean? What are the types of genetic testing? What goes into designing a genetic test? What is involved in validating this test clinically? What are the accuracy metrics? An easy listen covering a very complex topic.

Show Notes

References

Databse of Germline Variation, ClinVar: http://www.ncbi.nlm.nih.gov/clinvar/

Hosts

Arshi Arora

Arshi Arora

Arshi Arora is a Research Biostatistician at Memorial Sloan Kettering Cancer Center. She holds a double Masters of Science degree in Computational Biology and Biostatistics from Carnegie Mellon and Columbia University respectively. Her interests lie in creating elegant solutions to biological and clinical questions via simple yet compelling statistical models. She is a minimalist and follows an intense recycling waste regimen.

Sabah Kadri, PhD

Sabah Kadri, PhD

Dr. Sabah Kadri has a background in Computer Engineering with a PhD in Computational Biology from Carnegie Mellon University. Dr. Kadri leads a team of bioinformaticians and scientists to design, develop and implement cloud-based computational infrastructure and containerized bioinformatics software in clinical diagnostic services for germline and somatic next generation sequencing (NGS) testing. She has experience building clinical diagnostics pipelines and systems for adult and pediatric diseases and continues to work on informatics solutions and research questions for translational ‘omics’ and biomedical research to promote personalized medicine.

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