Mun Taher, Vaddadi Naga Sai Kavya, Langmead Ben
Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA.
Algorithms Mol Biol. 2023 May 5;18(1):2. doi: 10.1186/s13015-023-00225-3.
We present a new method and software tool called rowbowt that applies a pangenome index to the problem of inferring genotypes from short-read sequencing data. The method uses a novel indexing structure called the marker array. Using the marker array, we can genotype variants with respect from large panels like the 1000 Genomes Project while reducing the reference bias that results when aligning to a single linear reference. rowbowt can infer accurate genotypes in less time and memory compared to existing graph-based methods. The method is implemented in the open source software tool rowbowt available at https://github.com/alshai/rowbowt .
我们提出了一种名为rowbowt的新方法和软件工具,该方法将泛基因组索引应用于从短读长测序数据推断基因型的问题。该方法使用了一种名为标记阵列的新型索引结构。通过使用标记阵列,我们可以针对像千人基因组计划这样的大型样本对变异进行基因分型,同时减少与单个线性参考序列比对时产生的参考偏差。与现有的基于图谱的方法相比,rowbowt能够在更短的时间和更少的内存下推断出准确的基因型。该方法在开源软件工具rowbowt中实现,可在https://github.com/alshai/rowbowt获取。