SYSTEMS AND METHODS FOR ESTIMATING VARIANT-INDUCED DISEASE PENETRANCE AND ESTIMATING PROBABILITY OF DISEASE OCCURRENCE BASED ON THE SAME
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United States of America Patent
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Issued Date -
Dec 22, 2022
app pub date -
Jun 21, 2022
filing date -
Jun 21, 2022
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Abstract
Systems and methods for assessing a probability of a disease occurring in a patient based on an estimation of disease penetrance corresponding to a specific genetic variant of interest. An penetrance estimate is determined based on observed penetrance in patient data for the specific variant of interest and observed penetrance for a plurality of other variants that share some commonality with the specific variant of interest. The penetrance estimate is then refined by applying a recursive regression modeling until the penetrance estimate converges towards a final value. The probability of the disease occurring in a patient that has the specific variant of interest is then determined based on the posterior penetrance estimate as determined by the recursive regression modeling.
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