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RG : annotation of genomic regions with high/low variant calling concordance

This paper was not found in any repository; the policy of its publisher is unknown or unclear.
This paper was not found in any repository; the policy of its publisher is unknown or unclear.

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Abstract

Other ; The increasing adoption of whole-genomeresequencing in clinical and research environmentsdemands highly accurate and reproducible variantcalling (VC) methods. The observed discordancebetween state-of-the-art VC pipelines, however,indicates that the current practice still suffers fromnon-negligible numbers of false positive and negativeSNV and INDEL calls that were shown to beenriched among discordant calls but also in genomicregions with low sequence complexity. ReliableGenome (RG) is a method for partitioninggenomes into high and low concordance regionswith respect to a set of surveyed VC pipelines. RGintegrates variant call sets created by multiplepipelines from arbitrary numbers of input datasetsand interpolates expected concordance for genomicregions without data, resulting in a genome-wide concordancescore. RG is freely available for non-commercial use at https://github.com/popitsch/wtchg-rg/