Evaluation of in silico splice tools for decision-making in molecular diagnosis (Q51887371)

16 April 2018

title

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

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16 April 2018

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Dominique Stoppa-Lyonnet

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Dominique Stoppa-Lyonnet

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Virginie Caux-Moncoutier

5

Virginie Caux-Moncoutier

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16 April 2018

Claude Houdayer

1

Claude Houdayer

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Catherine Dehainault

2

Catherine Dehainault

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16 April 2018

Marion Gauthier-Villars

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Marion Gauthier-Villars

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Laurent Castera

9

Laurent Castera

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16 April 2018

Dorothée Michaux

4

Dorothée Michaux

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16 April 2018

Anthony Laugé

8

Anthony Laugé

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16 April 2018

author name string

Christophe Mattler

3

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16 April 2018

Sabine Pagès-Berhouet

6

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16 April 2018

Catherine Dubois d'Enghien

7

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16 April 2018

publication date

1 July 2008

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16 April 2018

published in

Human Mutation

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16 April 2018

volume

29

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16 April 2018

issue

7

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16 April 2018

page(s)

975-982

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16 April 2018

The use of the area under the ROC curve in the evaluation of machine learning algorithms

cites work

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https://api.crossref.org/works/10.1002%2FHUMU.20765

7 January 2021

Listening to silence and understanding nonsense: exonic mutations that affect splicing

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https://api.crossref.org/works/10.1002%2FHUMU.20765

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ESEfinder: A web resource to identify exonic splicing enhancers

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The Regulation of Splice-Site Selection, and Its Role in Human Disease

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7 January 2021

A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation

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https://api.crossref.org/works/10.1002%2FHUMU.20765

7 January 2021

Nonclassical splicing mutations in the coding and noncoding regions of the ATM Gene: maximum entropy estimates of splice junction strengths

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https://api.crossref.org/works/10.1002%2FHUMU.20765

7 January 2021

Predictive identification of exonic splicing enhancers in human genes

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https://api.crossref.org/works/10.1002%2FHUMU.20765

7 January 2021

Missense Mutations in hMLH1 and hMSH2 Are Associated with Exonic Splicing Enhancers

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https://api.crossref.org/works/10.1002%2FHUMU.20765

7 January 2021

Pre-mRNA splicing in the new millennium

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https://api.crossref.org/works/10.1002%2FHUMU.20765

7 January 2021

A variable dinucleotide repeat in the CFTR gene contributes to phenotype diversity by forming RNA secondary structures that alter splicing

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https://api.crossref.org/works/10.1002%2FHUMU.20765

7 January 2021

Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF.

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https://api.crossref.org/works/10.1002%2FHUMU.20765

7 January 2021

Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing

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7 January 2021

Finding signals that regulate alternative splicing in the post-genomic era

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7 January 2021

In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.

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https://api.crossref.org/works/10.1002%2FHUMU.20765

7 January 2021

A T to C mutation in the polypyrimidine tract of the exon 9 splicing site of the RB1 gene responsible for low penetrance hereditary retinoblastoma

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https://api.crossref.org/works/10.1002%2FHUMU.20765

7 January 2021

A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes

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https://api.crossref.org/works/10.1002%2FHUMU.20765

7 January 2021

Automated splicing mutation analysis by information theory

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https://api.crossref.org/works/10.1002%2FHUMU.20765

7 January 2021

Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20765

7 January 2021

Improved Splice Site Detection in Genie

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https://api.crossref.org/works/10.1002%2FHUMU.20765

7 January 2021

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

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https://api.crossref.org/works/10.1002%2FHUMU.20765

7 January 2021

Conservation of the RB1 gene in human and primates

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https://api.crossref.org/works/10.1002%2FHUMU.20765

7 January 2021

Multiple splicing defects in an intronic false exon

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https://api.crossref.org/works/10.1002%2FHUMU.20765

7 January 2021

Genotype-phenotype correlations in hereditary familial retinoblastoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20765

7 January 2021

Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5' splice-site disruption.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20765

7 January 2021

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals

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https://api.crossref.org/works/10.1002%2FHUMU.20765

7 January 2021

Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1.

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https://api.crossref.org/works/10.1002%2FHUMU.20765

7 January 2021

Identifiers

DOI

10.1002/HUMU.20765

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16 April 2018

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16 April 2018