Genotyping inversions and tandem duplications | Zendy

Jana Ebler | Zendy; Alexander Schönhuth | Zendy; Tobias Marschall | Zendy

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Genotyping inversions and tandem duplications

Author(s) -

Jana Ebler,

Alexander Schönhuth,

Tobias Marschall

Publication year - 2017

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/btx020

Subject(s) - genotyping , breakpoint , genotype , structural variation , gene duplication , genetics , biology , computational biology , copy number variation , typing , computer science , genome , gene , chromosomal translocation

Next Generation Sequencing (NGS) has enabled studying structural genomic variants (SVs) such as duplications and inversions in large cohorts. SVs have been shown to play important roles in multiple diseases, including cancer. As costs for NGS continue to decline and variant databases become ever more complete, the relevance of genotyping also SVs from NGS data increases steadily, which is in stark contrast to the lack of tools to do so.

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