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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 25, 2019

Qigang LiWing H Wong

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

Mentioned in this Paper

Association of American Medical Colleges
Genes
Positron-Emission Tomography
Medical Genetics Specialty
Clinical Genetics
Genomics
Massively-Parallel Sequencing
Description
Simulation
Gene Mutant
7
3
48
Paper Details
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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 25, 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

Mentioned in this Paper

Association of American Medical Colleges
Genes
Positron-Emission Tomography
Medical Genetics Specialty
Clinical Genetics
Genomics
Massively-Parallel Sequencing
Description
Simulation
Gene Mutant
7
3
48

Similar Papers Found In These Feeds

Stanford Department of Genetics

Find the latest research from the Stanford Medicine Department of Genetics here.

Comparative Sequencing

Inter/Intra-Species: Comparative Sequencing describes the sequencing techniques that compare between and within species genomes. Discover the latest research on comparative sequencing of inter/intra-species here.

Related Papers

Current Opinion in Genetics & Development

The current state of clinical interpretation of sequence variants

Current Opinion in Genetics & DevelopmentFebruary 6, 2017
Derick C HoskinsonHeather Mason-Suares
Paper Details
References
  • References
  • Citations1
  • finger pointing at paper

    References currently unavailable

    We're still populating references for this paper, please check back later.
  • References
  • Citations1
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