Academic Articles & Research Papers

Benchmarking short-read germline structural variant calling highlights advantages of using ensembles of tools and small impact of graph genome alignment.

A novel and accelerated method for integrated alignment and variant calling from short and long reads

BackgroundIntegrating short- and long-read sequencing technologies has become a promising approach for achieving accurate and comprehensive genomic analysis. Although short-read sequencing (Illumina, etc.) offers high base accuracy and cost...