Whole genome variant validation and discovery
Structural variants (SVs) affect more of the average human genome than SNVs and indels combined and frequently play critical roles in human disease.
However, SVs are often difficult to detect due to limitations in read length and systematic error. The Nabsys HD-Mapping™ platform addresses these shortcomings through high-resolution electronic detection of single DNA molecules hundreds of kilobases in length. These reads can be used directly for high-throughput systematic validation of thousands of putative SVs ranging in size from 300 base pairs to hundreds of kilobase pairs in length.
In addition, whole genome maps constructed from electronic detection of long molecules can be used effectively to facilitate the genome-wide discovery of SVs with high sensitivity and accuracy across a wide range of sizes.