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Shao-Yen Kao

dblp:425/2779 · DBLP profile ↗
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1ranked-venue papers
0as first author
1since 2021 · last 2023
—ORCID · none

Domains — the database's venue-derived domains; a paper can count in several

Applied, interdisciplinary, general and emerging computing · 1 · 1 since 2021

Expertise — from the expertise taxonomy: the topics of the expert's papers under the CCF categories. A weight counts papers with recency: 1 for a paper about the topic, 0.3 when the topic is its context, halved every five years.

Interdisciplinary, comprehensive, and emerging computing
1 paper
Bioinformatics and computational biology · 100%

Topics — the 2 heaviest of 2, each with the papers that count most for it

TopicWeightPapersLastEvidence papers
Bioinformatics and computational biology › transcriptomics › alternative splicing analysis
alternative splicing quantification
0.712023
Counting pseudoalignments to novel splicing events · Bioinform. 2023
Bioinformatics and computational biology › transcriptomics
RNA-seq analysis
0.712023
Counting pseudoalignments to novel splicing events · Bioinform. 2023

Methods — techniques the papers use, named apart from their topics

pseudoalignment · 0.7equivalence class counting · 0.7
YearPublicationVenuePosition
2023 Counting pseudoalignments to novel splicing events
abstract
MOTIVATION: Alternative splicing (AS) of introns from pre-mRNA produces diverse sets of transcripts across cell types and tissues, but is also dysregulated in many diseases. Alignment-free computational methods have greatly accelerated the quantification of mRNA transcripts from short RNA-seq reads, but they inherently rely on a catalog of known transcripts and might miss novel, disease-specific splicing events. By contrast, alignment of reads to the genome can effectively identify novel exonic segments and introns. Event-based methods then count how many reads align to predefined features. However, an alignment is more expensive to compute and constitutes a bottleneck in many AS analysis methods. RESULTS: Here, we propose fortuna, a method that guesses novel combinations of annotated splice sites to create transcript fragments. It then pseudoaligns reads to fragments using kallisto and efficiently derives counts of the most elementary splicing units from kallisto's equivalence classes. These counts can be directly used for AS analysis or summarized to larger units as used by other widely applied methods. In experiments on synthetic and real data, fortuna was around 7× faster than traditional align and count approaches, and was able to analyze almost 300 million reads in just 15 min when using four threads. It mapped reads containing mismatches more accurately across novel junctions and found more reads supporting aberrant splicing events in patients with autism spectrum disorder than existing methods. We further used fortuna to identify novel, tissue-specific splicing events in Drosophila. AVAILABILITY AND IMPLEMENTATION: fortuna source code is available at https://github.com/canzarlab/fortuna.
Luka Borozan, Francisca Rojas Ringeling, Shao-Yen Kao, Elena Nikonova, Pablo Monteagudo-Mesas, Domagoj Matijevic, Maria L. Spletter, Stefan Canzar
Bioinform.3