Consensus: a framework for evaluation of uncertain gene variants in laboratory test reporting.
Accurate interpretation of gene testing is a key component in customizing patient therapy. Where confirming evidence for a gene variant is lacking, computational prediction may be employed. A standardized framework, however, does not yet exist for quantitative evaluation of disease association for uncertain or novel gene variants in an objective manner. Here, complementary predictors for missense gene variants were incorporated into a weighted Consensus framework that includes calculated reference intervals from known disease outcomes. Data visualization for clinical reporting is also discussed.
University of Utah School of Medicine, Biomedical Informatics, 26 South 2000 East, Salt Lake City, UT 84112, USA. david.crockett@aruplab.com.
David K
DK
Crockett
Perry G
PG
Ridge
Andrew R
AR
Wilson
Elaine
E
Lyon
Marc S
MS
Williams
Scott P
SP
Narus
Julio C
JC
Facelli
Joyce A
JA
Mitchell