UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution

Human Mutation

Volumn 37, Issue 5, 2016, Pages 439-446

  Salgado, David ^a,b   Desvignes, Jean Pierre ^a,b   Rai, Ghadi ^a,b   Blanchard, Arnaud ^a,b   Miltgen, Morgane ^a,b   Pinard, Amélie ^a,b   Lévy, Nicolas ^a,b,c   Collod Béroud, Gwenaëlle ^a,b   Béroud, Christophe ^a,b,c  

^a AIX MARSEILLE UNIVERSITY   (France)

^b INSERM   (France)

^c TIMONE HOSPITAL   (France)

Author keywords

Bioinformatics; Mutation; NGS; Nonsense; Nonsynonymous; Pathogenicity prediction; Substitution; Synonymous

Indexed keywords

COMPLEMENTARY DNA;

ARTICLE; CONTROLLED STUDY; EVALUATION STUDY; GENE MUTATION; HIGH THROUGHPUT SEQUENCING; HUMAN; HUMAN GENOME; INHERITANCE; NEXT GENERATION SEQUENCING; PATHOGENICITY; PRIORITY JOURNAL; PROTEIN DOMAIN; ALGORITHM; AMINO ACID SUBSTITUTION; BIOLOGY; DNA SEQUENCE; EXOME; GENETIC DATABASE; GENETIC PREDISPOSITION; POINT MUTATION; PROCEDURES;

ALGORITHMS; AMINO ACID SUBSTITUTION; COMPUTATIONAL BIOLOGY; DATABASES, GENETIC; EXOME; GENETIC PREDISPOSITION TO DISEASE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; POINT MUTATION; SEQUENCE ANALYSIS, DNA;

EID: 84959220881     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22965     Document Type: Article

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