Identification of genetic variants associated with alternative splicing using sQTLseekeR-Reference-Cited by-同舟云学术

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Identification of genetic variants associated with alternative splicing using sQTLseekeR

Published:2014-08-20 Issue:1 Volume:5 Page:
ISSN:2041-1723
Container-title:Nature Communications
language:en
Short-container-title:Nat Commun

Author:

Monlong Jean,Calvo Miquel,Ferreira Pedro G.,Guigó Roderic

Publisher

Springer Science and Business Media LLC

Subject

General Physics and Astronomy,General Biochemistry, Genetics and Molecular Biology,General Chemistry

Link

http://www.nature.com/articles/ncomms5698.pdf

Reference40 articles.

1. Wang, G.-S. S. & Cooper, T. A. Splicing in disease: disruption of the splicing code and the decoding machinery. Nat. Rev. Genet. 8, 749–761 (2007).

2. Cáceres, J. F. & Kornblihtt, A. R. Alternative splicing: multiple control mechanisms and involvement in human disease. Trends Genet. 18, 186–193 (2002).

3. Guillermit, H. et al. A novel mutation in exon 3 of the CFTR gene. Hum. Genet. 91, 233–235 (1993).

4. Eriksson, M. et al. Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature 423, 293–298 (2003).

5. Zhao, K., Lu, Z. X., Park, J. W., Zhou, Q. & Xing, Y. GLiMMPS: robust statistical model for regulatory variation of alternative splicing using RNA-Seq data. Genome. Biol. 14, R74 (2013).

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