Assessing predictions of the impact of variants on splicing in CAGI5.

Autor: Mount SM; Department of Cell Biology and Molecular Genetics, University of Maryland, College Park, Maryland., Avsec Ž; Department of Informatics, Technical University of Munich, Garching, Germany., Carmel L; Department of Genetics, The Alexander Silberman Institute of Life Sciences, The Hebrew University of Jerusalem, Jerusalem, Israel., Casadio R; Department of Pharmacy and Biotechnology, Biocomputing Group, University of Bologna, Bologna, Italy., Çelik MH; Department of Informatics, Technical University of Munich, Garching, Germany., Chen K; School of Data and Computer Science, Sun Yat-sen University, Guangzhou, China., Cheng J; Department of Informatics, Technical University of Munich, Garching, Germany., Cohen NE; Department of Genetics, The Alexander Silberman Institute of Life Sciences, The Hebrew University of Jerusalem, Jerusalem, Israel.; The integrated program for Computer Science and Computational Biology, School of Computer Science and Engineering, The Hebrew University of Jerusalem, Jerusalem, Israel., Fairbrother WG; Department of Molecular Biology, Cell Biology, and Biochemistry, Center For Computational Biology, Brown University, Providence, Rhode Island., Fenesh T; The Mina and Everard Goodman Faculty of Life Sciences, Bar-Ilan University, Ramat-Gan, Israel., Gagneur J; Department of Informatics, Technical University of Munich, Garching, Germany., Gotea V; National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, Maryland., Holzer T; The Mina and Everard Goodman Faculty of Life Sciences, Bar-Ilan University, Ramat-Gan, Israel., Lin CF; Translational Informatics, DNAnexus, Mountain View, California., Martelli PL; Department of Pharmacy and Biotechnology, Biocomputing Group, University of Bologna, Bologna, Italy., Naito T; Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan., Nguyen TYD; Department of Informatics, Technical University of Munich, Garching, Germany., Savojardo C; Department of Pharmacy and Biotechnology, Biocomputing Group, University of Bologna, Bologna, Italy., Unger R; The Mina and Everard Goodman Faculty of Life Sciences, Bar-Ilan University, Ramat-Gan, Israel., Wang R; Department of Bioengineering, University of California, Berkeley, California.; Department of Plant and Molecular Biology, University of California, Berkeley, California., Yang Y; School of Data and Computer Science, Sun Yat-sen University, Guangzhou, China., Zhao H; Guangdong Provincial Key Laboratory of Malignant Tumor Epigenetics and Gene Regulation, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, China.

Publikováno v: Human mutation [Hum Mutat] 2019 Sep; Vol. 40 (9), pp. 1215-1224. Date of Electronic Publication: 2019 Aug 19.

Benchmarking splice variant prediction algorithms using massively parallel splicing assays.

Autor: Smith, Cathy, Kitzman, Jacob O.

Publikováno v: Genome Biology; 12/21/2023, Vol. 24 Issue 1, p1-22, 22p

Assessing predictions of the impact of variants on splicing in CAGI5

Autor: Rita Casadio, Jun Cheng, Ron Unger, Žiga Avsec, Ken Chen, Noa E. Cohen, Julien Gagneur, Chiao-Feng Lin, Robert Y. Wang, William G. Fairbrother, Yuedong Yang, Tamar Holzer, Thi Yen Duong Nguyen, Pier Luigi Martelli, Tzila Fenesh, Liran Carmel, Stephen M. Mount, Valer Gotea, Castrense Savojardo, Muhammed Hasan Çelik, Huiying Zhao, Tatsuhiko Naito

Publikováno v: Hum Mutat

Precision medicine and sequence-based clinical diagnostics seek to predict disease risk or to identify causative variants from sequencing data. The Critical Assessment of Genome Interpretation (CAGI) is a community experiment consisting of genotype-p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f7a4bba14a76c9632487441ac2721f2
https://doi.org/10.1002/humu.23869