The Complementarity Between Protein-Specific and General Pathogenicity Predictors for Amino Acid Substitutions

Human Mutation

Volumn 37, Issue 10, 2016, Pages 1013-1024

  Riera, Casandra ^a   Padilla, Natàlia ^a   de la Cruz, Xavier ^a,b  

^a UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^b INSTITUCIÓ CATALANA DE RECERCA I ESTUDIS AVANÇATS ICREA   (Spain)

Author keywords

amino acid variants; in silico pathogenicity predictions; missense variants; molecular diagnostics; next generation sequencing

Indexed keywords

PROTEIN;

AMINO ACID SUBSTITUTION; ARTICLE; COMPUTER MODEL; CONTROLLED STUDY; GENETIC VARIABILITY; MOLECULAR DIAGNOSIS; NEXT GENERATION SEQUENCING; PATHOGENICITY; PREDICTIVE VALUE; PRIORITY JOURNAL; SEQUENCE ALIGNMENT;

EID: 84987753776     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.23048     Document Type: Article

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