Improving variant calling by incorporating known genetic variants into read alignment

摘要

The identification of genetic variants has great significancein genetic research. To call variants using next-generationsequencing data, current methods rely primarily onmapped reads produced by a separate read aligner withouttaking into account existing genetic variants [1]. Thus,these methods usually require a large number of reads(high coverage) to be able to detect variants accurately [2].Moreover, the separation of read alignment and variantcalling results in a workflow is complex and involves manyseparate steps and different tools [3].