From genomic variation to molecular mechanism
| CopySeq | Discovery and copy-number genotyping of genomic structural variants |
| DELLY | Integrated split-read and paired-end based structural variant discovery in massively parallel sequencing data |
| PEMer | Discovery of genomic structural variants by high-throughput and massive paired-end mapping |
| BreakSeq | Nucleotide-resolution genotyping of structural variants in personal genomics data |
| BreakPtr | Mapping copy-number variation with high-density oligonucleotide tiling arrays. |
| PEMer | Discovery of genomic structural variants by high-throughput and massive paired-end mapping |