Consensus: a framework for evaluation of uncertain gene variants in laboratory test reporting.

Abstract:

: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.

journal_name

Genome Med

journal_title

Genome medicine

authors

Crockett DK,Ridge PG,Wilson AR,Lyon E,Williams MS,Narus SP,Facelli JC,Mitchell JA

doi

10.1186/gm347

subject

Has Abstract

pub_date

2012-05-28 00:00:00

pages

48

issue

5

issn

1756-994X

pii

gm347

journal_volume

4

pub_type

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