Identification of sequence variation is an important first step in determining critical genetic components of a phenotype. Structural variations (SVs) impact large stretches of sequence and are likely to impact phenotype. Retaining long-range contiguity throughout the genome mapping process is critical for any comprehensive study of genome structure and function, particularly for the analysis of structural variation in complex genomes. Bionano genome mapping offers unmatched sensitivity for the detection of large SVs.
Figure 1. Bionano maps can detect structural variation across different genomes
Table 1. Two homozygous cell lines, CHM1 and CHM13 were independently de novo assembled and insertions and deletions >500 bp called. Raw data was mixed together, assembled and SVs called (Mixture assemblies column). The sensitivity and positive predictive value (PPV) to detect heterozygous relative to homozygous SVs is shown.
Figure 2. DLS assembles the entire human chromosome 10 in two single maps, separated by the centromere (top). Gene positions are shown in green. Insert shows multiple large rearrangements assembled into a single map in the 10q11.21 region involved in intellectual disability/developmental delay.