A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders

Human Mutation

Volumn 37, Issue 1, 2016, Pages 127-134

  Karbassi, Izabela ^a   Maston, Glenn A ^a   Love, Angela ^a   Divincenzo, Christina ^a   Braastad, Corey D ^a   Elzinga, Christopher D ^a   Bright, Alison R ^a   Previte, Domenic ^a   Zhang, Ke ^a   Rowland, Charles M ^a   Mccarthy, Michele ^a   Lapierre, Jennifer L ^a   Dubois, Felicita ^a   Medeiros, Katelyn A ^a   Batish, Sat Dev ^a   Jones, Jeffrey ^a   Liaquat, Khalida ^a   Hoffman, Carol A ^a   Jaremko, Malgorzata ^a   Wang, Zhenyuan ^a   Sun, Weimin ^a   Buller Burckle, Arlene ^a   Strom, Charles M ^a   Keiles, Steven B ^a   Higgins, Joseph J ^a   more..

^a QUEST DIAGNOSTICS NICHOLS INSTITUTE   (United States)

Author keywords

Clinical laboratory techniques; Databases; Decision support techniques; Mutation; Nucleic acid; Polymorphism

Indexed keywords

DNA;

ARTICLE; ATTRIBUTABLE RISK; CLINICAL LABORATORY; COMPARATIVE STUDY; CONTROLLED STUDY; DNA DETERMINATION; DNA VARIANT SCORING SYSTEM; FAMILY; FRAMESHIFT MUTATION; GENE FREQUENCY; GENE SEGREGATION; GENETIC DISORDER; GENETIC LINKAGE; GENETIC VARIABILITY; HUMAN; INDEL MUTATION; MENDELIAN DISORDER; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; MOLECULAR PATHOLOGY; PREDICTIVE VALUE; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; SCORING SYSTEM; SEGREGATION ANALYSIS; SENSITIVITY AND SPECIFICITY; BIOLOGY; GENETIC PREDISPOSITION; GENETIC VARIATION; GENOMICS; OBSERVER VARIATION; PROCEDURES; REPRODUCIBILITY; SOFTWARE; WEB BROWSER;

COMPUTATIONAL BIOLOGY; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENOMICS; HUMANS; OBSERVER VARIATION; REPRODUCIBILITY OF RESULTS; SOFTWARE; WEB BROWSER;

EID: 84954398459     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22918     Document Type: Article

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