Individuals suspected of having a rare disease often face a long search for an answer. With up to 80% of rare diseases being genetic or having a genetic subtype, it is imperative to interrogate the genome to find answers and shorten the diagnostic odyssey. This webinar provides an overview of the integrated workflow provided by Illumina for rare and undiagnosed diseases research. Starting from library prep to sequencing and informatics, Illumina empowers researchers to find the answers they seek in rare and undiagnosed disease research.
Speaker:
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Ritika Chaturvedi
Senior Technical Application Scientist,
Illumina
Ritika holds a Master’s degree in Biotechnology from the Indian Institute of Technology Guwahati (IIT-G) in India. She has an experience of more than 10 years working in the field of genomics with extensive knowledge in NGS applications and data analysis. In her career, she has gained experience in clinical laboratory management and working as a Field Application Scientist, helping customers in trainings and in technical support. Ritika is passionate about using her knowledge and experience in troubleshooting technical challenges. She joined Illumina in 2022 as a Senior Technical Applications Scientist. Since then, she has specialized in supporting customers in instrumentation, software analysis and clinical workflows.
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