Analyzing Segmental Duplications with DRAGEN’s Virtual Long Read Detection Pipeline
Segmental duplications present a unique challenge when analyzing next-generation sequencing (NGS) data. When a sequence read maps to a segmental duplication region, the mapping algorithm cannot confidently assign it to a genomic locus resulting in low MAPQ score, or wrong alignment. The failure to call variants in segmental duplications can miss important aspects of the genome, including several regions linked to rare disease. Users who want to get comprehensive variant calls including in difficult to map regions of the genome must resort to using expensive long reads technology. The DRAGEN Virtual Long-Read Detection (VLRD) Pipeline calls variants in segmental duplications from short read sequence data, as produced by most sequencing instruments today, and demonstrates higher accuracy at short read lengths than traditional variant callers perform at the longer read lengths. Accuracy of DRAGEN VLRD has shown better accuracy with read lengths of A than the accuracy of a traditional variant caller having read lengths that are 6 to 8 times the lengths of A.
Come hear from Rami Mehio, Vice President of Engineering to learn more about the DRAGEN VLRD Pipeline.
When: Wednesday, February 21st, 2018
Time: 10am PST / 1pm EST / 6pm GMT
The webinar will be available on-demand after this date.
Vice President of Engineering
Rami has more than 15 years’ experience in leading engineering teams in diverse fields such as genomic pipeline development, FPGA acceleration and cellular baseband RF IC development. At Edico Genome, Rami has led the engineering effort for the past four years. His achievements at Edico include producing the DRAGEN Bio-IT Platform for ultra-rapid secondary analysis of genomes. In the past year, Rami led the effort to port the DRAGEN architecture onto the AWS F1 FPGA instances, culminating in the launch of Edico’s pipelines on the AWS marketplace and other distribution channels. Prior to joining Edico Genome, Rami was Director of Modem Firmware Engineering at Broadcom, leading L1 SW, RF driver and modem BSP teams. Both a technical engineering manager and system architect, Rami has a track record of managing multi-disciplinary development teams and taking products to market. Rami was instrumental in the development and commercialization of five cellular chips and sale of 200+ million chips. He is named as an inventor of 14 patents. Rami received an M.Eng. in Telecommunications and Signal Processing and B.Eng. in Electrical Engineering from McGill University, Montreal.