Splice Junction Annotation
Splice Junction Annotation is a computational genomics task that identifies and characterizes the precise boundaries between exons and introns in transcribed RNA sequences by mapping discontinuous alignments of sequencing reads to a reference genome, thereby delineating splice junctions within the transcriptome.
81
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85.6K
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560
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202
Institutions
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2017–2026
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STAR: ultrafast universal RNA-seq aligner
Alexander Dobin, Carrie Davis, Felix Schlesinger et al. · Bioinformatics · 2012 · 56.2K citations · Full text
TopHat: discovering splice junctions with RNA-Seq
Cole Trapnell, Lior Pachter, Steven L. Salzberg · Bioinformatics · 2009 · 12.1K citations · Full text
A catalogue of splice junction sequences
Stephen M. Mount · Nucleic Acids Research · 1982 · 3.9K citations · Full text
Human Gene Mutation Database (HGMD<sup>®</sup>): 2003 update
Peter D. Stenson, Edward V. Ball, Matthew Mort et al. · Human Mutation · 2003 · 1.9K citations
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Johns Hopkins University
Baltimore, United States
6 h-index
49 publications
5.3K citations
Lieber Institute for Brain Development
Baltimore, United States
5 h-index
10 publications
1K citations
Yale University
New Haven, United States
4 h-index
17 publications
7.9K citations
Stanford University
Stanford, United States
4 h-index
15 publications
1.4K citations

Johns Hopkins Medicine
Baltimore, United States
4 h-index
11 publications
1.8K citations
University of California San Diego
San Diego, United States
4 h-index
6 publications
166 citations

Wellcome Sanger Institute
Cambridge, United Kingdom
4 h-index
9 publications
1.2K citations

Cornell University
Ithaca, United States
4 h-index
7 publications
420 citations
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16 publications · 8.8K citations
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9 publications · 68.6K citations
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7 publications · 1.1K citations
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GR · 6 publications · 710 citations
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Repository · 5 publications · 88 citations
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