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

regulation of gene expression

main subject

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8 September 2019

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14 September 2019

computational biology

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8 April 2021

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2

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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

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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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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

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

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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

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

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

28 September 2017

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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

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28 September 2017

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

28 September 2017

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

28 September 2017

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28 September 2017

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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

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Improved Splice Site Detection in Genie

31 May 2018

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31 May 2018

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31 May 2018

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

31 May 2018

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

21 January 2018

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Automated splicing mutation analysis by information theory

21 January 2018

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

21 January 2018

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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

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

1 reference

1 reference

PubMed publication ID

24263461

1 reference