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US 11,798,651 B2Granted
Molecular evidence platform for auditable, continuous optimization of variant interpretation in genetic and genomic testing and analysis
AssigneeInvitae Corporation
InventorsAlexandre Colavin, Carlos L. Araya, Jason A. Reuter
Life of this patent
Estimating the term…
Abstract
Disclosed herein are system, method, and computer program product embodiments for optimizing the determination of a phenotypic impact of a molecular variant identified in molecular tests, samples, or reports of subjects by way of regularly incorporating, updating, monitoring, validating, selecting, and auditing the best-performing evidence models for the interpretation of molecular variants across a plurality of evidence classes.
Claims20
A computer implemented method for predicting a phenotypic impact of a molecular variant of interest, the method comprising:
- obtaining an evidence model comprising evidence data, wherein the evidence data comprises objects, algorithms, and/or functions that yield predictions of phenotypic impacts of molecular variants for a target entity;
- determining validation performance data for the evidence model based on production data, wherein the production data represents a first plurality of molecular variants with associated phenotypic impacts derived from clinical data and/or population data, and wherein the validation performance data corresponds to a uniform set of performance metrics computed using the production data;
- determining test performance data for the evidence model based on the evidence data and test data, wherein the test data comprises a second plurality of molecular variants with associated phenotypic impacts derived from clinical data and/or population data, wherein the second plurality of molecular variants are disjoint from the first plurality of molecular variants, and wherein the test performance data corresponds to the uniform set of performance metrics computed using the test data;
- and
- generating a ranking for the target entity based on the validation performance data and/or the test performance data, the ranking comprising the evidence model and one or more additional evidence models.
2 more elements
A system for predicting a phenotypic impact of a molecular variant of interest, the system comprising:
- at least one computer hardware processor;
- and
- at least one non-transitory computer readable storage medium storing processor executable instructions that, when executed by the at least one computer hardware processor, cause the at least one computer hardware processor to:
- obtain an evidence model comprising evidence data, wherein the evidence data comprises objects, algorithms, and/or functions that yield predictions of phenotypic impacts of molecular variants for a target entity;
- determine validation performance data for the evidence model based on production data, wherein the production data represents a first plurality of molecular variants with associated phenotypic impacts derived from clinical data and/or population data, and wherein the validation performance data corresponds to a uniform set of performance metrics computed using the production data;
- determine test performance data for the evidence model based on the evidence data and test data, wherein the test data comprises a second plurality of molecular variants with associated phenotypic impacts derived from clinical data and/or population data, wherein the second plurality of molecular variants are disjoint from the first plurality of molecular variants, and wherein the test performance data corresponds to the uniform set of performance metrics computed using the test data;
- and
- generate a ranking for the target entity based on the validation performance data and/or the test performance data, the ranking comprising the evidence model and one or more additional evidence models.
5 more elements
At least one non-transitory computer readable storage medium storing processor executable instructions that, when executed by at least one computer hardware processor, cause the at least one computer hardware processor to:
- obtain an evidence model comprising evidence data, wherein the evidence data comprises objects, algorithms, and/or functions that yield predictions of phenotypic impacts of molecular variants for a target entity;
- determine validation performance data for the evidence model based on production data, wherein the production data represents a first plurality of molecular variants with associated phenotypic impacts derived from clinical data and/or population data, and wherein the validation performance data corresponds to a uniform set of performance metrics computed using the production data;
- determine test performance data for the evidence model based on the evidence data and test data, wherein the test data comprises a second plurality of molecular variants with associated phenotypic impacts derived from clinical data and/or population data, wherein the second plurality of molecular variants are disjoint from the first plurality of molecular variants, and wherein the test performance data corresponds to the uniform set of performance metrics computed using the test data;
- and
- generate a ranking for the target entity based on the validation performance data and/or the test performance data, the ranking comprising the evidence model and one or more additional evidence models.
2 more elements
Dependencies are inferred from the claim text.