To accompany the recent Genome Biology special issue on exome sequencing, we have made a podcast focusing on the challenges of identifying disease genes using exome sequencing and whole genome sequencing (you can read more about our special issue on exome sequencing in our previous blog post.)

In the podcast we speak with Jim Lupski about his journey to identify the genetic cause of his Charcot Marie Tooth Syndrome. Identifying the cause of this genetically heterogenous disease proved difficult; partially because there are many genes that can be mutated causing this disease, partially because of the specific type of mutation that often causes it – a gene copy number variation.

Jay Shendure discusses how he developed exome sequencing, and how his team gambled upon its use in identifying disease mutations. This technique has proven very successful thus far in identifying causes of Mendelian disease and Joris Veltman spoke with us about his work on mutations in Mental Retardation.

We also chatted with Elaine Mardis about the suitability of exome sequencing for identifying mutations in cancer.

Furthermore, we add to the general debate surrounding the application of sequencing techniques in the clinic and whether there is an expiry date on exome sequencing.

The podcast is available to stream below (or download here, 35.8MB) and is also available on iTunes.

Hannah Stower
Genome Biology Special Issues Editor