Investigating Element Data with Google DeepVariant - Andrew Carroll, PhD

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.

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