Detection of mosaic and population-level structural variants with Sniffles2

Patient enrollment

The 31 individuals (proband and parents) included in this study were enrolled into research protocols approved by the institutional review board (IRB) at Baylor College of Medicine and the Pacific Northwest Research Institute (H-29697 and H-47127 and WIRB 20202158).

Sniffles2 methodology

Sniffles2: germline calling

An overview of the steps involved in the Sniffles2 germline SV detection algorithm is shown in Supplementary Fig. 13.

Sniffles2 germline mode accepts aligned long reads as input (BAM or CRAM format, sorted by genomic coordinate and indexed). First, read alignments…