Register for this webinar to learn how to use Ingenuity Variant Analysis to analyze whole genome sequencing data. Chris Mason, Ph.D., will present a case study where Variant Analysis was used to analyze data from rare clinical cases with extreme phenotypes from the NIH's Undiagnosed Disease program and a consanguineous family with neural-tube defects. You’ll learn how to pinpoint likely genes causing disease phenotypes and see how an integrated systems biology approach that leverages biological analysis can contribute to advancements in personalized medicine.

Addtional Case Study Details:

We used the Ingenuity Variant Analysis™  on Illumina Genome Network (IGN) data, using low input (500ng), whole-genome sequencing of rare clinical cases with extreme phenotypes from the NIH's Undiagnosed Disease Program (UDP) and a consanguineous family with neural-tube defects (NTDs).  We found coverage across the genome was high for all samples (median 39X), including regulatory regions such as enhancers and promoters (40X).  We have been able to use these data and IVA to pinpoint the likely genes for the disease phenotypes.  We also compared the output from the IGN software suite (CASAVA/GROUPER) to SAMtools/GATK and we found that most SNVs and indels overlapped (91%), and that those variants specific to each software suite showed higher Ti/Tv ratio.  Overall, these data show that the era of easy, fast, and deep genome sequencing is here, and we present the utility of these genetic data with other modalities of the biology (transcriptional, epigenetic, proteomic) that can function as a systems biology approach for personalized medicine.