A SYSTEM FOR DETERMINING DIPLOTYPES
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United States of America Patent
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Issued Date -
Aug 20, 2020
app pub date -
Jan 7, 2017
filing date -
Jan 7, 2016
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Abstract
A system is provided for predicting the diplotype of an individual comprising the steps of (a) initializing a data store with a plurality of pre-defined locus positions and a plurality of pre¬defined nomenclatures, (b) retrieving genomic sequencing results of an individual, (c) comparing a plurality of variant calls and associated zygosities with the plurality of pre-defined locus positions and plurality of pre-defined nomenclatures to identify the individual's diplotype, (d) assigning a score to each of the plurality of pre-defined locus positions based on the comparison of step (c), (e) reporting at least one score (typically the highest score) and associated diplotype to an end user. The present invention can further comprise the step of using the associated diplotype of step (e) to predict the biological impact or phenotype of the individual.
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