SYSTEMS AND METHODS FOR DETECTING HOMOPOLYMER INSERTIONS/DELETIONS
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United States of America Patent
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Aug 9, 2017
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Aug 14, 2012
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Abstract
Systems and method for determining variants can receive mapped reads and determine a distribution of matched-filter residuals distribution from a plurality of reads at a homopolymer region. The distribution of matched-filter residuals can be fit to uni-modal and bi-modal models. Based on the model that best fits the distribution of matched-filter residuals, the heterozygosity of the sample and the absence or presence of an insertion/deletion in the homopolymer can be determined.
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