Using Data to Identify the Genomic Cause of Disease
A number of diseases, including cancer, are caused by genomic mutations. The task of identifying the causative mutation requires sequencing the genome and then analysing the large amount of data that results. What follows can often be confounding in various ways as this talk will illustrate with real examples – infants who pass away mysteriously, siblings with misplaced organs, a little boy suffering from bone marrow failure, an infant whose blood can’t carry enough oxygen, a middle-aged cancer patient, and my own color blindness. Some of these stories are captured in a book called Genomic Quirks.
Ramesh Hariharan is CTO at Strand Life Sciences and Adjunct Professor at the Indian Institute of Science. For more information, see http://www.hariharan-ramesh.com