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Precision information extraction for rare disease epidemiology at scale.

William Z KariampuzhaGioconda AlyeaSue QuJaleal SanjakEwy MathéEric SidHaley ChatelaineArjun YadawYanji XuQian Zhu
Published in: Journal of translational medicine (2023)
EpiPipeline4RD demonstrated high performance of EI extraction from rare disease literature to augment manual curation processes. This automated information curation paradigm will not only effectively empower development of the NIH Genetic and Rare Diseases Information Center (GARD), but also support the public health of the rare disease community.
Keyphrases
  • public health
  • health information
  • healthcare
  • machine learning
  • gene expression
  • genome wide
  • copy number
  • single cell
  • global health