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Research Interests
Research in the Mount lab is devoted to understanding how multicellular organisms accomplish the correct processing of RNA from protein-coding genes. This involves identifying the elements of primary sequence information that determine where (and whether or not) splicing will occur, determining which components of the splicing machinery play especially salient roles in recognizing those signals, and determining how those factors act.
Recently, our focus has been increasingly directed towards the use of bioinformatics, primarily in collaborative projects. When the first eukaryotic genes were sequenced, and introns were discovered, similarity in the sequences at splice sites served as important clues to the way that splice sites were recognized. We have applied knowledge of how splice sites are recognized to the impact of human genetic variation on splicing, finding that a surprisingly large fraction of "Impact SNPs" may act through splicing.
Another current focus is on improving our ability to infer patterns of splicing, including unusual events (such as extremely small exons or splicing at sites that do not fit consensus) from available data (most often, short read RNAseq data). Ongoing research in this area is focused on comparison of existing methods for analysis of differential alternative splicing using RNA-seq data.
研究兴趣
论文共 93 篇作者统计合作学者相似作者
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bioRxiv the preprint server for biology (2024)
Manoj Kumar Kashyap,Hiren Karathia,Deepak Kumar,Roberto Vera Alvarez,Jose Vicente Forero-Forero,Eider Moreno,Juliana Velez Lujan,Carlos Ivan Amaya-Chanaga,Newton Medeiros Vidal,Zhe Yu,Emanuela M. Ghia,Paula A. Lengerke-Diaz, Daniel Achinko,Michael Y. Choi,Laura Z. Rassenti,Leonardo Marino-Ramirez,Stephen M. Mount,Sridhar Hannenhalli,Thomas J. Kipps,Januario E. Castro
MOLECULAR THERAPY NUCLEIC ACIDSno. 2 (2024)
Cancer researchno. 6_Supplement (2024): 1615-1615
Bixuan Wang,Stephen M. Mount
NAR GENOMICS AND BIOINFORMATICSno. 3 (2024)
NAR genomics and bioinformaticsno. 3 (2024): lqae115-lqae115
Jenny Lord,Carolina Jaramillo Oquendo,Htoo A. Wai,Andrew G.L Douglas,David J. Bunyan, Yaqiong Wang,Zhiqiang Hu,Zishuo Zeng,Daniel Danis,Panagiotis Katsonis,Amanda Williams,Olivier Lichtarge, Yuchen Chang,Richard D. Bagnall,Stephen M. Mount,Brynja Matthiasardottir,Chiaofeng Lin,Thomas van Overeem Hansen,Raphael Leman,Alexandra Martins,Claude Houdayer,Sophie Krieger,Constantina Bakolitsa,Yisu Peng,Akash Kamandula,Predrag Radivojac,Diana Baralle
Horticulture researchno. 12 (2023)
PLANT PHYSIOLOGYno. 2 (2023): 1016-1035
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作者统计
#Papers: 93
#Citation: 24790
H-Index: 40
G-Index: 73
Sociability: 6
Diversity: 3
Activity: 30
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