TSSV: a tool for characterization of complex allelic variants in pure and mixed genomes | Zendy

Seyed Yahya Anvar | Zendy; Kristiaan J. van der Gaag | Zendy; Jaap W. F. van der Heijden | Zendy; Marcel H. A. M. Veltrop | Zendy; Rolf H. A. M. Vossen | Zendy; Rick H. de Leeuw | Zendy; Cor Breukel | Zendy; Henk P.J. Buermans | Zendy; J. Sjef Verbeek | Zendy; Peter de Knijff | Zendy; Johan T. den Dunnen | Zendy; Jeroen F. J. Laros | Zendy

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TSSV: a tool for characterization of complex allelic variants in pure and mixed genomes

Author(s) -

Seyed Yahya Anvar,

Kristiaan J. van der Gaag,

Jaap W. F. van der Heijden,

Marcel H. A. M. Veltrop,

Rolf H. A. M. Vossen,

Rick H. de Leeuw,

Cor Breukel,

Henk P.J. Buermans,

J. Sjef Verbeek,

Peter de Knijff,

Johan T. den Dunnen,

Jeroen F. J. Laros

Publication year - 2014

Publication title -

bioinformatics

Language(s) - English

Resource type - Journals

eISSN - 1367-4811

pISSN - 1367-4803

DOI - 10.1093/bioinformatics/btu068

Subject(s) - python (programming language) , computational biology , computer science , genetics , genome , genomics , biology , transcription activator like effector nuclease , genome editing , programming language , gene

Advances in sequencing technologies and computational algorithms have enabled the study of genomic variants to dissect their functional consequence. Despite this unprecedented progress, current tools fail to reliably detect and characterize more complex allelic variants, such as short tandem repeats (STRs). We developed TSSV as an efficient and sensitive tool to specifically profile all allelic variants present in targeted loci. Based on its design, requiring only two short flanking sequences, TSSV can work without the use of a complete reference sequence to reliably profile highly polymorphic, repetitive or uncharacterized regions.

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