Impact of structural prior knowledge in SNV prediction: Towards causal variant finding in rare disease

PLoS ONE

Volumn 13, Issue 9, 2018, Pages

  Dehiya, Vasundhara ^a,b   Thomas, Jaya ^a,b   Sael, Lee ^c  

^a State University of New York   (South Korea)

^b Stony Brook University   (United States)

^c Seoul National University   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; ATTITUDE TO HEALTH; CONTROLLED STUDY; EMPIRICAL RESEARCH; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENE STRUCTURE; GENETIC ANALYSIS; GENETIC VARIABILITY; HUMAN; MACHINE LEARNING; PATHOGENICITY; PREDICTION; PROTEIN STRUCTURE; RARE DISEASE; SINGLE NUCLEOTIDE POLYMORPHISM; WILD TYPE; ALGORITHM; BINDING SITE; BIOLOGY; GENETICS; RECEIVER OPERATING CHARACTERISTIC; REPRODUCIBILITY;

BRCA2 PROTEIN;

ALGORITHMS; BINDING SITES; BRCA2 PROTEIN; COMPUTATIONAL BIOLOGY; GENETIC LOCI; HUMANS; MACHINE LEARNING; POLYMORPHISM, SINGLE NUCLEOTIDE; RARE DISEASES; REPRODUCIBILITY OF RESULTS; ROC CURVE;

EID: 85054078463     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0204101     Document Type: Article

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