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Updated: Jan 19, 2026

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
Published on: October 18, 2013
Assexon: Assembling Exon Using Gene Capture Data
Hao Yuan1,2,3, Calder Atta4, Luke Tornabene4
1Shanghai Universities Key Laboratory of Marine Animal Taxonomy and Evolution (Shanghai Ocean University), Shanghai, China.
Assexon is a new bioinformatics pipeline that efficiently and accurately assembles targeted exons from large exon capture datasets. It outperforms existing methods in locus assembly and speed, while avoiding paralogs for robust phylogenomic studies.
Area of Science:
- Bioinformatics
- Genomics
- Evolutionary Biology
Background:
- Exon capture is widely used for phylogenomic studies in non-model organisms.
- Reference-based assembly methods are unsuitable for species with wide phylogenetic divergence.
- Existing de novo assembly methods struggle with low read depth, large files, and paralogs.
Purpose of the Study:
- To develop a streamlined pipeline, Assexon, for de novo assembly of targeted exons and flanking sequences from raw sequencing reads.
- To evaluate Assexon's performance against established pipelines like PHYLUCE and HybPiper.
Main Methods:
- Assexon pipeline for de novo assembly of targeted exons.
- Testing with exon capture data from *Lepisosteus osseus* and *Boleophthalmus pectinirostris*.
- Comparative analysis with PHYLUCE, HybPiper, and a custom pipeline (CP).
Main Results:
- Assexon assembled significantly more loci than PHYLUCE and HybPiper.
- Assexon demonstrated superior speed, running at least twice as fast as PHYLUCE and HybPiper, and seven times faster than CP.
- Assexon and CP successfully avoided paralogs, unlike PHYLUCE and HybPiper.
Conclusions:
- Assexon is an accurate and efficient tool for assembling large exon capture datasets.
- The pipeline includes features for filtering, statistical analysis, and selecting reliable phylogenetic loci.
- Assexon offers a robust solution for phylogenomic studies requiring multi-locus data from non-model organisms.
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