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Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome.

Anthony ScottFelicia HernandezAdam ChamberlinCathy SmithRachid KaramJacob O Kitzman
Published in: Genome biology (2022)
This study demonstrates how high-throughput functional assays can empower scalable VUS resolution and prospectively generate strong evidence for variant classification.
Keyphrases
  • high throughput
  • machine learning
  • deep learning
  • single cell
  • case report