P591: Assessing the performance of automated HPO term extraction for deep phenotyping of patients receiving WES/WGS in a clinical diagnostic laboratory

Παρόμοια τεκμήρια

• P591: Assessing the performance of automated HPO term extraction for deep phenotyping of patients receiving WES/WGS in a clinical diagnostic laboratory
  από: Kai Lee Yap, κ.ά.
  Έκδοση: (2023-01-01)
• P119: Genomic tumor profiling and identification of germline cancer predisposition variants in a pediatric cohort
  από: Pamela Rathbun, κ.ά.
  Έκδοση: (2025-01-01)
• P454: Investigating the efficacy of targeted NGS panels with rapid TAT for pediatric patients with narrow differential diagnoses
  από: Andy Drackley, κ.ά.
  Έκδοση: (2023-01-01)
• P683: Natural language processing for deep phenotyping of patients receiving genomic testing enables effective gene prioritization in a clinical diagnostics pipeline
  από: Andy Drackley, κ.ά.
  Έκδοση: (2025-01-01)
• P489: Retrospective review of genetic testing and variant reclassification in patients with congenital cataracts
  από: Alexander Ing, κ.ά.
  Έκδοση: (2023-01-01)