The discovery and characterization of sequence variations in human populations are crucial in genetic studies. Standard methods for addressing this problem are computationally expensive and highly time consuming, thus impractical for clinical applications, where time is often an issue. When the task is to genotype variations that have been previously annotated, alignment-free methods come to the aid. Here, we describe MALVA, an alignment-free approach for genotyping a set of known variations. MALVA is the first mapping-free tool which is able to genotype multi-allelic SNPs and indels, even in high-density genomic regions, and to effectively handle a huge number of variations.

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Methods in Molecular Biology
Centrum Wiskunde & Informatica, Amsterdam (CWI), The Netherlands

Bernardini, G, Denti, L, & Previtali, M. (2022). Alignment-free genotyping of known variations with MALVA. In Variant Calling. doi:10.1007/978-1-0716-2293-3_15