DELLY2

"Delly2" is a structural variant (SV) discovery method to accurately identify a wide range of genomic rearrangements at single-nucleotide resolution within personal genome sequencing data. This method integrates diverse sequencing data types, including short-insert paired-ends, long-range mate-pairs, and split-read alignments, to provide a comprehensive approach for delineating genomic rearrangements. Delly2's capability to detect simple and complex SVs, including copy-number variations, deletions, tandem duplications, inversions, and reciprocal translocations, makes it a versatile tool for exploring the mechanisms and functional consequences of SVs in the genome.

Key Features and Functionalities:

High Sensitivity and Specificity: Delly2 is designed to offer high sensitivity and specificity in the discovery of genomic structural variants, which are essential for understanding natural variation and pathological rearrangements.

- Integration of Multiple Sequencing Data Types: By integrating short insert paired-ends, long-range mate-pairs, and split-read alignments, Delly2 can accurately characterize genomic rearrangements, providing a holistic view of SVs in sequencing datasets.

- Single-Nucleotide Resolution: Delly2's ability to delineate genomic rearrangements at single-nucleotide resolution enables precise investigation into SVs' formation mechanisms and functional implications.

- Detection of a Wide Range of SVs: Suitable for detecting deletions, tandem duplications, inversions, and reciprocal translocations, Delly2 can ascertain the full spectrum of genomic rearrangements, including complex events.