Aquila_stLFR: diploid genome assembly based structural variant calling package for stLFR linked-read

Motivation Identifying structural variants (SVs) is of critical importance in health and disease, however, detecting them remains a scientific and computing challenge. Several linked-read sequencing technologies, including 10X linked-read, TELL-Seq, and single tube long fragment read (stLFR), have been recently developed as cost-effective approaches to reconstruct multi-megabase haplotypes (phase blocks) from sequence data of a single sample. These technologies provide an optimal sequencing platform to characterize SVs, though few computational algorithms can utilize them. Thus, we developed Aquila_stLFR, an approach that resolves SVs through haplotype-based assembly of stLFR linked-reads. Results Aquila\_stLFR first partitions LFRs into two haplotype-specific blocks, by taking advantage of the potential phasing ability of the linked-read itself. Each haplotype is then assembled independently, to achieve a complete diploid assembly to finally reconstruct the genome-wide SVs. We benchmarked Aquila\_stLFR on a well-studied sample, NA24385, and showed Aquila_stLFR can detect medium to large size (50bp – 10kb) deletions with a high sensitivity and insertions with a high specificity. Availability Source code and documentation are available on . Contact maizie.zhou{at}vanderbilt.edu Supplementary information Supplementary data are available at Bioinformatics online. ### Competing Interest Statement The authors have declared no competing interest.