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Pseudoassembly of k-mers

Sullivan, D. K.; Boffelli, M.; Pachter, L.

2025-05-13 bioinformatics
10.1101/2025.05.11.653354 bioRxiv
Show abstract

We introduce a pseudoassembly approach to identifying variation in sets of genomic sequences via colored de Bruijn graphs. Our pseudoassembly method is implemented in a program called klue that assembles k-mers into sequences compatible with a variant-aware extension of pseudoalignment. We show that this approach can be used to identify cell-type specific de novo variants from single-cell RNA-seq in a mouse melanoma model.

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