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Deletion identification software tools | High-throughput sequencing data analysis

Advances of next generation sequencing technologies and availability of short read data enable the detection of structural variations (SVs). Deletions, an important type of SVs, have been suggested in association with genetic diseases. There are three types of deletions: blunt deletions, deletions with microhomologies and deletions with microsinsertions. The last two types are very common in the human genome, but they pose difficulty for the detection. Furthermore, finding deletions from sequencing data remains challenging.

Source text:
(Zhang et al., 2016) Sprites: detection of deletions from sequencing data by re-aligning split reads. Bioinformatics.

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