Sullivan Delaney K, Boffelli Mayuko, Pachter Lior
Division of Biology and Biological Engineering, California Institute of Technology, Pasadena, CA 91125, USA.
UCLA-Caltech Medical Scientist Training Program, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.
bioRxiv. 2025 May 13:2025.05.11.653354. doi: 10.1101/2025.05.11.653354.
We introduce a 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 variants from single-cell RNA-seq in a mouse melanoma model.
我们介绍了一种通过彩色德布鲁因图来识别基因组序列集合中变异的方法。我们的伪组装方法在一个名为klue的程序中实现，该程序将k-mer组装成与伪比对的变异感知扩展兼容的序列。我们表明，这种方法可用于从小鼠黑色素瘤模型中的单细胞RNA测序中识别细胞类型特异性变异。
