MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing

Abstract We have developed a novel machine-learning approach, MutPred Splice, for the identification of coding region substitutions that disrupt pre-mRNA splicing. Applying MutPred Splice to human disease-causing exonic mutations suggests that 16% of mutations causing inherited disease and 10 to 14%...
Ausführliche Beschreibung

Gespeichert in:
Autor*in:

Mort, Matthew [verfasserIn]

Sterne-Weiler, Timothy

Li, Biao

Ball, Edward V

Cooper, David N

Radivojac, Predrag

Sanford, Jeremy R

Mooney, Sean D

Format:

E-Artikel

Sprache:

Englisch

Erschienen:

2014

Schlagwörter:

Splice Site

Random Forest

Single Base Substitution

Exonic Variant

Human Splice Finder

Anmerkung:

© Mort et al.; licensee BioMed Central Ltd. 2014. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (

Übergeordnetes Werk:

Enthalten in: Genome biology - London : BioMed Central, 2000, 15(2014), 1 vom: 13. Jan.

Übergeordnetes Werk:

volume:15 ; year:2014 ; number:1 ; day:13 ; month:01

Links:

Volltext

DOI / URN:

10.1186/gb-2014-15-1-r19

Katalog-ID:

SPR030019133

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