Likelihood ratios to assess genetic evidence for clinical significance of uncertain variants: Hereditary hemorrhagic telangiectasia as a model

Experimental and Molecular Pathology

Volumn 85, Issue 1, 2008, Pages 45-49

  Bayrak Toydemir, Pinar ^a,b   McDonald, Jamie ^a,b   Mao, Rong ^a,b   Phansalkar, Amit ^b   Gedge, Friederike ^b   Robles, Jorge ^c   Goldgar, David ^a   Lyon, Elaine ^a,b  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b ARUP INSTITUTE FOR CLINICAL AND EXPERIMENTAL PATHOLOGY   (United States)

^c ARUP LABORATORIES   (United States)

Author keywords

Bayes factor; Family segregation study; Hereditary hemorrhagic telangiectasia (HHT); Missense mutation; Variant of uncertain significance (VUS)

Indexed keywords

ACTIVIN RECEPTOR 1; ACTIVIN RECEPTOR LIKE KINASE 1; ENDOGLIN;

BAYES THEOREM; CONTROLLED STUDY; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; INHERITANCE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; ORTHOLOGY; PARALOGY; PEDIGREE; PENETRANCE; RENDU OSLER WEBER DISEASE; REVIEW;

ACTIVIN RECEPTORS, TYPE I; ADULT; ANTIGENS, CD; BAYES THEOREM; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LIKELIHOOD FUNCTIONS; MALE; MUTATION; PEDIGREE; PENETRANCE; PREDICTIVE VALUE OF TESTS; RECEPTORS, CELL SURFACE; TELANGIECTASIA, HEREDITARY HEMORRHAGIC;

EID: 46749115464     PISSN: 00144800     EISSN: 10960945     Source Type: Journal    
DOI: 10.1016/j.yexmp.2008.03.006     Document Type: Review

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