Investigating Element Data with Google DeepVariant

Andrew Carroll, PhD - Product Lead, Google Health Genomics

Analyzed Element data through dual lenses: human-written heuristics and machine learning.
Used DeepVariant as the open source method of variant detection.
When compared with existing technologies Element performed as well or better in some cases:
- Element matches existing technologies for typical WGS coverage
- DeepTrio observed fewer false de novo calls with Element, facilitating rare disease classification.
- A cleaner error profile at lower sequencing depths has the potential to unlock more applications.