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Repeat- and error-aware comparison of deletions

机译:重复和错误感知的删除比较

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摘要

Motivation: 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.
机译:动机:下一代测序数据的不断积累使报告的遗传变异数量迅速增加。一个主要问题是可比性。缺少解决断点预测不准确和重复引起歧义性的综合问题的标准。这决定性地降低了“共识”调用集的质量,并阻碍了变体数据库中重复项的删除,这可能对下游分析产生有害影响。

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