Invited Talk: Rare disease diagnostic platform

Prashanth Athri, Ph.D.
Senior Specialist, Strand Life Sciences, Bengaluru, India

Rare disease diagnostic platform

At Strand, genomic sequencing combined with bioinformatic analysis have provided discriminative diagnosis in the case of rare genetic disorders. Inspired by these cases, we are building an integrated software that combines curated literature content and bioinformatics databases with a clinically oriented user interface to substantially compress time taken to determine likely candidate genetic variants in a Diagnostic Odyssey. At the back end we employ various algorithms that systematically query our diverse knowledgebase to provide the clinicians a comprehensive, and possibly multidimensional, annotation of the variant in the context of disease.