Fig. 1
From: Comprehensive de novo mutation discovery with HiFi long-read sequencing
Study overview. We performed PacBio HiFi long-read sequencing and Illumina short-read sequencing for eight parent–child trios A De novo substitutions, indels, STRs, and SVs were called using dedicated bioinformatic tools. B For the small DNMs (substitutions and indels), the different call sets are depicted including the workflow of comparing the LRS call set to the SRS call set and the other way around. C The workflow for the comparison of STRs between LRS and SRS. D The workflow for the comparison of SVs between LRS and SRS. The circles in this figure are not drawn to scale