Detecting genomic indel variants with exact breakpoints in single- and paired-end sequencing data using SplazerS | Zendy

AnneKatrin Emde | Zendy; Marcel H. Schulz | Zendy; David Weese | Zendy; Ruping Sun | Zendy; Martin Vingron | Zendy; Vera M. Kalscheuer | Zendy; Stefan A. Haas | Zendy; Knut Reinert | Zendy

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Detecting genomic indel variants with exact breakpoints in single- and paired-end sequencing data using SplazerS

Author(s) -

AnneKatrin Emde,

Marcel H. Schulz,

David Weese,

Ruping Sun,

Martin Vingron,

Vera M. Kalscheuer,

Stefan A. Haas,

Knut Reinert

Publication year - 2012

Publication title -

bioinformatics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.599

H-Index - 390

eISSN - 1367-4811

pISSN - 1367-4803

DOI - 10.1093/bioinformatics/bts019

Subject(s) - indel , breakpoint , computational biology , computer science , indel mutation , structural variation , genetics , biology , reference genome , dna sequencing , genome , gene , chromosome , single nucleotide polymorphism , genotype

The reliable detection of genomic variation in resequencing data is still a major challenge, especially for variants larger than a few base pairs. Sequencing reads crossing boundaries of structural variation carry the potential for their identification, but are difficult to map.

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