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DELLY is a workflow for the discovery of germline and somatic structural variants. Delly is an integrated structural variant prediction method that can detect deletions, tandem duplications, inversions and translocations at single-nucleotide resolution in short-read massively parallel sequencing data. It uses paired-ends and split-reads to sensitively and accurately delineate genomic rearrangements throughout the genome, and includes a genotyping functionality for discriminating heterozygous from homozygous variants.

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Neither development nor maintenance funded by de.NBI, funded by ICGC Pedbrain (BMBF - 01KU1201C and DKH 109252), MMML MYC SYS (BMBF 0316166F), 1000 genomes (NIH/NHGRI 1U41HG007497-01)