Dr. Suravajhala works as a dry biologist in next-generation genome-sequencing research. In this podcast, he explains

• what we still don't know about the human genome despite the first sequencing in 2003,
• the difference between introns and exons, and
• what exactly next-generation sequencing offers scientists in locating mutations that lead to disease.

Dr. Suravajhala is a Senior Scientist of Systems Biology in the Department of Biotechnology and Bioinformatics at Birla Institute in Jaipur, India. He works on next-generation sequencing to better-identify disease-causing mutations.

Specifically, this means he works with the protein-coding exome, which makes up about 1.8% of the genome in an arrangement of exons.

As a dry biologist working in systems biology and clinical exomes, he utilizes the newest technology to get a closer look at these exons for sequencing, separating out what is called exon "chunks."

To explain next-generation sequencing compared to the initial sequencing, he uses an aerial view analogy, likening the next-generation work as akin to 100x while the 2003 view is more of a 10x magnification.

He explains this in more detail and describes how this larger map of about 150 bases at a time can help identify disease-causing mutations, such as a case he worked on that involved the rare disease pouch colon. He and his team were able to identify the mutations that were only present in affected family members.

For more information, search pub med and google scholar for papers by Dr. Prashanth N Suravajhala.