Methods for identifying structural variants in DNA
By employing short-read sequencing and multiple downsampling mapping techniques, the high cost and low accuracy of SV identification in plant genomes have been addressed, achieving high accuracy and high recall for SV identification and supporting precision breeding in agricultural breeding.
Patent Information
- Authority / Receiving Office
- CN · China
- Patent Type
- Applications(China)
- Current Assignee / Owner
- BASF AGRICULTURAL SOLUTIONS SEED US LLC
- Filing Date
- 2024-12-19
- Publication Date
- 2026-07-17
AI Technical Summary
Existing technologies are difficult to use efficiently and economically to identify structural variants (SVs) in plant genomes, especially in agricultural breeding where their application is limited. Furthermore, existing methods are costly, lack accuracy and recall.
Short-read sequencing technology is used to generate initial full-sample SV detection by sequencing target DNA to a high read depth. Then, the sample is downsampled to a low read depth and the mapping is repeated multiple times to generate subsample SV detection. The support of subsamples and initial full samples is compared to improve the accuracy and recall of SV identification.
It enables high-precision and high-recall SV identification in plant genomes, supports precise breeding decisions in agricultural breeding, and reduces sequencing and processing costs.
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