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US 2017/0286594 A1Published application
Genetic Variant-Phenotype Analysis System And Methods Of Use
OwnerJeffrey Reid, Omri Gottesman +4inventors
InventorsJeffrey Reid, Omri Gottesman, Lukas Habegger, Brian Cajes, Jeffrey Staples, Evan Maxwell
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Abstract
Methods and systems for generating and analyzing genetic variant-phenotype association results are disclosed.
Claims23
A system comprising:
- a genetic data component configured for functionally annotating one or more genetic variants obtained from sequence data;
- a phenotypic data component configured for determining one or more phenotypes for one or more patients for whom the sequence data was obtained and analyzed by the genetic data component;
- a genetic variant-phenotype association data component configured for determining one or more associations between the one or more genetic variants and the one or more phenotypes;
- and
- a data analysis component configured for generating, storing, and indexing the one or more associations from the genetic variant-phenotype association data component.
2 more elements
The system of claim 11, wherein the quantitative phenotype component is configured for analyzing de-identified medical information to identify a continuous variable and assign a phenotype based on the identified continuous variable.
A method, comprising:
- receiving a plurality of variants from exome sequencing data;
- assessing a functional impact of the plurality of variants;
- generating an effect prediction element for each of the plurality of variants;
- and
- assembling the effect prediction element into a searchable database comprising the plurality of variants.
2 more elements
A method, comprising:
- querying a genetic data component for a variant associated with a gene of interest;
- passing the variant to a phenotypic data component as a query for a cohort possessing the variant;
- passing the variant and the cohort to a genetic variant-phenotype association data component to determine an association result between the variant and a phenotype of the cohort;
- passing the association result to a data analysis component to store and index the association result by at least one of the variant and the phenotype;
- and
- querying the data analysis component by a target variant or a target phenotype, wherein the association result is provided in response.
3 more elements
Dependencies are inferred from the claim text.