Genomes to affordable accessible diagnostics for Hyper IgD Syndrome

Mr Abhinav Jain, graduate student at CSIR Institute of Genomics and Integrative Biology presented on the Genomic approaches to understand the molecular defects in a cohort of inherited Hyper IgD syndrome , a heavily under-diagnosed but prevalent autoinflammatory disease 
Abhinav has extensively used whole exome sequencing and data mining to understand the prevalent genetic variants which has led to the development of cost effective, affordable and accessible genetic Diagnostics based on the mutational hotspots. The genetic test is presently made available at Government Medical College, Kozhikode 

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