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A method of predicting changes in human gene splicing induced by genetic variants in context of cis-acting elements

Alexander Churbanov*, Igor Vořechovský and Chindo Hicks

BMC Bioinformatics 2010, 11:22 doi:10.1186/1471-2105-11-22

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Identification of cis-regulatory sequence variations in individual genome sequences

Rebecca Worsley-Hunt, Virginie Bernard, Wyeth W Wasserman Genome Medicine 2011, 3:65 (10 October 2011)

Abstract | Full text | PDF | PubMed |  Editor’s summary

Wasserman and colleagues review existing methods and software for predicting the impact of cis-regulatory mutations on disease gene transcription and RNA processing.

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

Kirsten Faber, Karl-Heinz Glatting, Phillip J Mueller, Angela Risch, Agnes Hotz-Wagenblatt BMC Bioinformatics 2011, 12(Suppl 4):S2 (5 July 2011)

Abstract | Full text | PDF | PubMed | Cited on BioMed Central

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