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 Medjournal_title
Genome medicineauthors
Crockett DK,Ridge PG,Wilson AR,Lyon E,Williams MS,Narus SP,Facelli JC,Mitchell JAdoi
10.1186/gm347subject
Has Abstractpub_date
2012-05-28 00:00:00pages
48issue
5issn
1756-994Xpii
gm347journal_volume
4pub_type
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