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

Genetics in Medicine

Volumn 21, Issue 9, 2019, Pages 2126-2134

  Li, Qigang ^a   Zhao, Keyan ^a   Bustamante, Carlos D ^b   Ma, Xin ^a,b   Wong, Wing H ^b  

^a GenomCan Inc   (China)

^b STANFORD UNIVERSITY   (United States)

Author keywords

ACMG AMP guideline; machine learning; phenotype score; rare disease diagnosis; variant prioritization

Indexed keywords

ARTICLE; BENCHMARKING; CLINICAL FEATURE; CONTROLLED STUDY; EMISSION RECEPTION INFORMATION CONTENT SCORE; GENETIC ASSOCIATION; GENETIC SIMILARITY; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HEREDITY; HUMAN; INTERMETHOD COMPARISON; MACHINE LEARNING; NEXT GENERATION SEQUENCING; PHENOTYPE; RARE DISEASE; SCORING SYSTEM; BIOLOGY; EXOME; GENETIC SCREENING; GENETIC VARIATION; GENETICS; GENOMICS; GENOTYPE; HIGH THROUGHPUT SEQUENCING; MUTATION; PROCEDURES; SOFTWARE;

COMPUTATIONAL BIOLOGY; EXOME; GENETIC TESTING; GENETIC VARIATION; GENOMICS; GENOTYPE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MACHINE LEARNING; MUTATION; PHENOTYPE; RARE DISEASES; SOFTWARE;

EID: 85060610025     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/s41436-019-0439-8     Document Type: Article

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