Pathogenicity scoring system for human clinical genetics
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United States of America Patent
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Sep 1, 2020
Grant Date -
Sep 1, 2016
app pub date -
Oct 22, 2014
filing date -
Oct 22, 2013
priority date (Note) -
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Abstract
Provided are methods and systems for determining the clinical significance of a genetic variant. The methods entail determining, for the variant, (a) a function score based on known impact of the variant on a biological function of a cell or protein, (b) a frequency score based on the frequency of the variant in a population, (c) a co-occurrence score based on how the variant co-occurs with a reference variant having known clinical significance relating to a clinical disease or condition, and (d) a family segregation score based on how the variant segregates with a disease or condition in a family; and aggregating, on a computer, the function score, the frequency score, the co-occurrence score, the family segregation score to generate a clinical significance score indicating the clinical significance of the genetic variant.
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