Repeat- and error-aware comparison of deletions | Zendy

Roland Wittler | Zendy; Tobias Marschall | Zendy; Alexander Schönhuth | Zendy; Veli Mäkinen | Zendy

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Repeat- and error-aware comparison of deletions

Author(s) -

Roland Wittler,

Tobias Marschall,

Alexander Schönhuth,

Veli Mäkinen

Publication year - 2015

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/btv304

Subject(s) - computer science , redundancy (engineering) , comparability , matching (statistics) , data mining , open source , relevance (law) , computational biology , information retrieval , software , programming language , biology , statistics , mathematics , political science , law , combinatorics , operating system

The number of reported genetic variants is rapidly growing, empowered by ever faster accumulation of next-generation sequencing data. A major issue is comparability. Standards that address the combined problem of inaccurately predicted breakpoints and repeat-induced ambiguities are missing. This decisively lowers the quality of 'consensus' callsets and hampers the removal of duplicate entries in variant databases, which can have deleterious effects in downstream analyses.

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