Genome-wide landscape of RNA-binding protein target site dysregulation reveals a major impact on psychiatric disorder risk

作者: Olga G. Troyanskaya , Robert B. Darnell , Chandra L. Theesfeld , Aaron K. Wong , Jian Zhou

DOI: 10.1038/S41588-020-00761-3

关键词:

摘要: … LD score regression with our deep learning framework … variants into four different MAF bins (>0.05, 0.05–0.01, 0.01–0.001, … modeled using a Fisher polygenic model with trait heritability …

参考文章(89)
Hilary K Finucane, Brendan Bulik-Sullivan, Alexander Gusev, Gosia Trynka, Yakir Reshef, Po-Ru Loh, Verneri Anttila, Han Xu, Chongzhi Zang, Kyle Farh, Stephan Ripke, Felix R Day, ReproGen Consortium, Schizophrenia Working Group of the Psychiatric Genomics Consortium, Raci Consortium, Shaun Purcell, Eli Stahl, Sara Lindstrom, John RB Perry, Yukinori Okada, Soumya Raychaudhuri, Mark J Daly, Nick Patterson, Benjamin M Neale, Alkes L Price, None, Partitioning heritability by functional annotation using genome-wide association summary statistics Nature Genetics. ,vol. 47, pp. 1228- 1235 ,(2015) , 10.1038/NG.3404
J. D. Storey, R. Tibshirani, Statistical significance for genomewide studies Proceedings of the National Academy of Sciences of the United States of America. ,vol. 100, pp. 9440- 9445 ,(2003) , 10.1073/PNAS.1530509100
Mauro Costa-Mattioli, Wayne S. Sossin, Eric Klann, Nahum Sonenberg, Translational control of long-lasting synaptic plasticity and memory. Neuron. ,vol. 61, pp. 10- 26 ,(2009) , 10.1016/J.NEURON.2008.10.055
Rotem Sorek, Gil Ast, Intronic Sequences Flanking Alternatively Spliced Exons Are Conserved Between Human and Mouse Genome Research. ,vol. 13, pp. 1631- 1637 ,(2003) , 10.1101/GR.1208803
Qinghong Yan, Sebastien M. Weyn-Vanhentenryck, Jie Wu, Steven A. Sloan, Ye Zhang, Kenian Chen, Jia Qian Wu, Ben A. Barres, Chaolin Zhang, Systematic discovery of regulated and conserved alternative exons in the mammalian brain reveals NMD modulating chromatin regulators Proceedings of the National Academy of Sciences of the United States of America. ,vol. 112, pp. 3445- 3450 ,(2015) , 10.1073/PNAS.1502849112
Chris Jordan, Kathe Henke, Andrew Stone, Luis Brandwayn, Anne Belsito, Marvin A. Sackner, Measurement of systolic time intervals during exercise using inductive plethysmography International Journal of Clinical Monitoring and Computing. ,vol. 1, pp. 137- 146 ,(1984) , 10.1007/BF01872763
Michael T Lovci, Dana Ghanem, Henry Marr, Justin Arnold, Sherry Gee, Marilyn Parra, Tiffany Y Liang, Thomas J Stark, Lauren T Gehman, Shawn Hoon, Katlin B Massirer, Gabriel A Pratt, Douglas L Black, Joe W Gray, John G Conboy, Gene W Yeo, Rbfox proteins regulate alternative mRNA splicing through evolutionarily conserved RNA bridges. Nature Structural & Molecular Biology. ,vol. 20, pp. 1434- 1442 ,(2013) , 10.1038/NSMB.2699
Ludwine M. Messiaen, Tom Callens, Geert Mortier, Diane Beysen, Ina Vandenbroucke, Nadine Van Roy, Frank Speleman, Anne De Paepe, Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. Human Mutation. ,vol. 15, pp. 541- 555 ,(2000) , 10.1002/1098-1004(200006)15:6<541::AID-HUMU6>3.0.CO;2-N