Figure 1.
Overview of study design. A total of 250 parent-offspring families were sequenced at 14.5× coverage. De novo indel and structural variant (SV) calling was performed using 11 algorithms combining gapped reads, split reads, discordant read-pairs, and read depth approaches to cover the entire mutation size spectrum. All candidate indels (1169 in 99 children) and SVs (601 in 258 children) were subjected to experimental validation, leading to 291 validated de novo indels and 41 de novo SVs.
