In silico tools for splicing defect prediction: a survey from the viewpoint of end users

Comparative In Vitro and In Silico Analyses of Variants in Splicing Regions of BRCA1 and BRCA2 Genes and Characterization of Novel Pathogenic Mutations

(2013) Mara Colombo et al.   PLoS One

Spliceman--a computational web server that predicts sequence variations in pre-mRNA splicing

(2012) K. H. Lim et al.   BIOINFORMATICS

Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants

(2012) Claude Houdayer et al.   HUMAN MUTATION

Genome-wide prediction of splice-modifying SNPs in human genes using a new analysis pipeline called AASsites

(2011) Kirsten Faber et al.   BMC BIOINFORMATICS

Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes

(2011) Jean Christophe Théry et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Loss of exon identity is a common mechanism of human inherited disease

(2011) T. Sterne-Weiler et al.   GENOME RESEARCH

Using positional distribution to identify splicing elements and predict pre-mRNA processing defects in human genes

(2011) K. H. Lim et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

RNA and Disease

(2009) Thomas A. Cooper et al.   CELL

Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium

(2009) Bruce M. Psaty et al.   Circulation-Cardiovascular Genetics

Missed threads. The impact of pre-mRNA splicing defects on clinical practice

(2009) Diana Baralle et al.   EMBO REPORTS

Ab initio prediction of mutation-induced cryptic splice-site activation and exon skipping

(2009) Petr Divina et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: Comparison of wet-lab and bioinformatics analyses

(2009) Øystein L. Holla et al.   MOLECULAR GENETICS AND METABOLISM

SROOGLE: webserver for integrative, user-friendly visualization of splicing signals

(2009) S. Schwartz et al.   NUCLEIC ACIDS RESEARCH

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

Evaluation of in silico splice tools for decision-making in molecular diagnosis

(2008) Claude Houdayer et al.   HUMAN MUTATION

Intronic variants inBRCA1andBRCA2that affect RNA splicing can be reliably selected by splice-site prediction programs

(2008) Maaike P.G. Vreeswijk et al.   HUMAN MUTATION