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Xrare: a machine learning method jointly modeling phenotypes and genetic evidence for rare disease diagnosis

Genetics in Medicine : Official Journal of the American College of Medical Genetics

Jan 24, 2019

Qigang LiWing H Wong

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Abstract

Despite the successful progress next-generation sequencing technologies has achieved in diagnosing the genetic cause of rare Mendelian diseases, the current diagnostic rate is still far from satisfactory because of heterogeneity, imprecision, and noise in disease phenotype descriptions ...read more

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  • Xrare: a machine learning method jointly modeling phenotypes and genetic evidence for rare disease diagnosis

    Genetics in Medicine : Official Journal of the American College of Medical Genetics

    Jan 24, 2019

    Qigang LiWing H Wong

    PMID: 30675030

    DOI: 10.1038/s41436-019-0439-8

    Abstract

    Despite the successful progress next-generation sequencing technologies has achieved in diagnosing the genetic cause of rare Mendelian diseases, the current diagnostic rate is still far from satisfactory because of heterogeneity, imprecision, and noise in disease phenotype descriptions ...read more

    6
    3
    31

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