The typical human genome contains some 4.5 million variants relative to the human reference genome. In addition, every individual has approximately 50 de novo variants which occur uniquely in their genome and can cause disease. With trio analysis, it is possible to identify de novo variants, the parental origin of interesting inherited mutations, and examine the carrier status of individuals for rare recessive mutations. This webinar will demonstrate the power of running Sentieon tools on DNAnexus for rapid cohort variant calling and joint genotyping.
Speaker: Don Freed, PhD, Bioinformatics Scientist
- Rapidly run joint genotyping and identify de novo mutations from a trio in about one hour
- Achieve deterministic variant calls, with no run-to-run differences and no down-sampling in high coverage regions
- Perform accelerated analysis on cohorts of thousands of samples