Publications by authors named "Mary Meskell"

Article Synopsis
  • Effective genetic diagnosis relies on linking genetic data to detailed clinical information, but manual data entry is time-consuming and prone to bias.
  • Natural language processing (NLP) can streamline this process, but variations in physician notes pose challenges; our methods improve NLP outputs for more accurate automatic diagnosis.
  • We developed a filtering system that enhances gene prioritization by using optimized extracted terms, showing that in 92% of cases, NLP could replace manual extraction, and in 75% of cases, we ranked the correct gene higher with filters applied.
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