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bioRxiv · 10.1101/601450

SICaRiO: Short Indel Call filteRing with bOosting

Bhuyan, M. S. I.·Pe'er, I.·Rahman, M. S.
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Abstract

Despite impressive improvement in the next-generation sequencing technology, reliable detection of indels is still a difficult endeavour. Recognition of true indels is of prime importance in many applications, such as, personalized health care, disease genomics, population genetics etc. Recently, advanced machine learning techniques have been successfully applied to classification problems with large-scale data. In this paper, we present SICaRiO, a gradient boosting classifier for reliable detection of true indels, trained with gold-standard dataset from genome-in-a-bottle (GIAB) consortium. Our filtering scheme significantly improves the performance of each variant calling pipeline used in GIAB and beyond. SICaRiO uses genomic features which can be computed from publicly available resources, hence, we can apply it on any indel callsets not having sequencing pipeline-specific information (e.g., read depth). This study also sheds lights on prior genomic contexts responsible for indel calling error made by sequencing platforms. We have compared prediction difficulty for three indel categories over different sequencing pipelines. We have also ranked genomic features according to their predictivity in determining false indel calls.

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Bhuyan, M. S. I., Pe'er, I., Rahman, M. S.. 2019-04-07. SICaRiO: Short Indel Call filteRing with bOosting. https://doi.org/10.1101/601450

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