In silico tools for splicing defect prediction: a survey from the viewpoint of end users (Q26830428)

regulation of gene expression

main subject

1 reference

8 September 2019

1 reference

14 September 2019

computational biology

1 reference

8 April 2021

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2

0 references

author name string

Xueqiu Jian

series ordinal

1

1 reference

Xiaoming Liu

series ordinal

3

1 reference

language of work or name

1 reference

July 2014

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1 July 2014

4 references

30 June 2019

8 September 2019

14 September 2019

8 April 2021

5 references

30 June 2019

8 September 2019

14 September 2019

8 April 2021

16

1 reference

issue

7

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page(s)

497-503

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

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

7 April 2017

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7 April 2017

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Prediction of complete gene structures in human genomic DNA

7 April 2017

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Organization and expression of eucaryotic split genes coding for proteins

7 April 2017

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

7 April 2017

1 reference

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7 April 2017

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Identification and characterization of a spinal muscular atrophy-determining gene

7 April 2017

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7 April 2017

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ESEfinder: A web resource to identify exonic splicing enhancers

7 April 2017

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

7 April 2017

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The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

7 April 2017

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Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations

7 April 2017

1 reference

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

28 September 2017

1 reference

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

28 September 2017

1 reference

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

28 September 2017

1 reference

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4029872

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

28 September 2017

1 reference

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

28 September 2017

1 reference

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

28 September 2017

1 reference

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

28 September 2017

1 reference

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

28 September 2017

1 reference

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Splicing in disease: disruption of the splicing code and the decoding machinery

28 September 2017

1 reference

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SplicePort--an interactive splice-site analysis tool

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4029872

Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2.

28 September 2017

1 reference

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A novel approach to describe a U1 snRNA binding site.

28 September 2017

1 reference

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Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1.

28 September 2017

1 reference

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GeneSplicer: a new computational method for splice site prediction

28 September 2017

1 reference

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An amazing sequence arrangement at the 5' ends of adenovirus 2 messenger RNA.

28 September 2017

1 reference

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

28 September 2017

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Improved splice site detection in Genie

31 May 2018

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Analysis of donor splice sites in different eukaryotic organisms.

31 May 2018

1 reference

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Prediction of human mRNA donor and acceptor sites from the DNA sequence.

31 May 2018

1 reference

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Gene structure prediction from consensus spliced alignment of multiple ESTs matching the same genomic locus.

31 May 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.176

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.176

Automated splicing mutation analysis by information theory.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.176

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.176

Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programs

21 January 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/24263461

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/GIM.2013.176

1 reference

Dimensions Publication ID

1386205

1020768095

0 references

Fatcat ID

release_ff5ob3lcr5eifdxrlf4zkpuo2u

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ff5ob3lcr5eifdxrlf4zkpuo2u

mapped directly with Wikidata item

24 November 2022

based on heuristic

1386205

1 reference

1 reference

1 reference