bioRxivBioinformaticsPreprint
Pseudoassembly of k-mers
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.
- organism: mouse
- assay: scRNA-seq
- research focus: variant calling
- approach: statistical model
- approach: experimental assay
- Citations
- 2
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