Next generation sequencing has revealed a lot about genetic variations such as single nucleotide polymorphisms (SNPs), single nucleotide variations (SNVs), copy number variations (CNVs), insertions and deletions (indels), inversions and translocations. Information on genetic variations has been used to better understand the inheritance and susceptibility of certain diseases, response to drugs, signaling pathways involved in normal versus disease states and more. However, biological interpretation of thousands of variants is a bottleneck in extracting valuable insights from DNA sequencing studies, often requiring months of effort after completion of the reference genome alignment and variant calling steps. These limitations can largely be overcome by using more sophisticated informatics tools that can help interpret the biology accurately and in more detail.
Dr. Hugh Rienhoff is a San Francisco Bay area clinical scientist and entrepreneur. In 1998, he founded DNA Sciences (originally Kiva Genetics), a company focused on genetic discoveries. He is also Director of MyDaughtersDNA.org, an advocacy organization dedicated to understanding the genetics of rare diseases. Dr. Rienhoff is an Adjunct Scientist at the Children’s Hospital Oakland Research Institute and is a Visiting Scholar at the University of California at Berkeley.