Supplementary Figure 3: Examples of validated breakpoints and their detailed junction sequences.
From: Picky comprehensively detects high-resolution structural variants in nanopore long reads
Nanopore read-to-genome alignments, junction sequences and affected genes were shown in each SV class. The micro-homologous sequences shared between junctions were highlighted in red boxes. (a) TDJ. (b) INS. (c) DEL. (d) INV. (e) TLC. The translocation t(1;8) identified is consistent with translocation identified previously by spectral karyotyping (SKY)32 with base resolution. (f) Amplified PCR fragments across breakpoints for each SVs shown in (a)-(e) were analyzed by Bioanalyzer (Agilent Technologies). L: molecular size markers. Independent repeats = 2.
