A Classification Model Relative to Splicing for Variants of Unknown Clinical Significance: Application to the CFTR Gene. Issue 5 (5th April 2013)

• Record Type: Journal Article
• Authors: Raynal, Caroline; Baux, David; Theze, Corinne; Bareil, Corinne; Taulan, Magali; Roux, Anne‐Françoise; Claustres, Mireille; Tuffery‐Giraud, Sylvie; des Georges, Marie
• Is Part Of: Human mutation. Volume 34:Issue 5(2013:May)
• Page Start: 774
• Page End: 784
• Publication Date: 2013-04-05
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22291
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22291-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>More than 1, 900 sequence variations have already been reported worldwide in the <italic>CFTR</italic> gene, including at least 20% variants of unknown clinical significance (VUCS). We built a decision tree for the classification of these VUCS, specifically focused on their consequences on splicing by performing (1) comprehensive review of literature and databases (2) familial genetics data analysis and (3) thorough in silico studies. Our method can play a full role in interpreting the results of molecular diagnosis in emergency context. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgg1xtvctpg" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>