Genotype calling
Assignee23andMe, Inc.
InventorsAlexander Wong, Oleksiy Khomenko, Serge Saxonov, Brian Thomas Naughton, Lawrence Hon
Life of this patent
Estimating the term…
Abstract
Determining a genetic sequence for a particular site on an individual's genome is disclosed, including: receiving a measurement associated with a particular sequence for the particular site on the individual's genome, receiving contextual information associated with a context of the individual within a larger collection of genetic information, and using the measurement associated with the particular sequence and the contextual information to compute an improved determination of the genetic sequence at the particular site on the individual's genome.
Claims20
A system for determining a genetic sequence for a particular site on an individual's genome, comprising:
- a processor configured to:
- receive a measurement associated with a particular sequence for the particular site on the individual's genome;
- receive contextual information associated with a context of the individual within a larger collection of genetic information;
- and
- use the measurement associated with the particular sequence and the contextual information to compute an improved determination of the genetic sequence at the particular site on the individual's genome, including to perform a statistical analysis using the measurement associated with the particular sequence and the contextual information to determine a call with the highest probability based on the measurement and the contextual information;
- and
- a memory coupled to the processor and configured to provide the processor with instructions.
A method for determining a genetic sequence for a particular site on an individual's genome, comprising:
- receiving a measurement associated with a particular sequence for the particular site on the individual's genome;
- receiving contextual information associated with a context of the individual within a larger collection of genetic information;
- and
- using one or more computer processors the measurement associated with the particular sequence and the contextual information to compute an improved determination of the genetic sequence at the particular site on the individual's genome, including performing a statistical analysis using the measurement associated with the particular sequence and the contextual information to determine a call with the highest probability based on the measurement and the contextual information.
A computer program product for determining a genetic sequence for a particular site on an individual's genome, the computer program product being embodied in a non-transitory tangible computer readable medium and comprising computer instructions for:
- receiving a measurement associated with a particular sequence for the particular site on the individual's genome;
- receiving contextual information associated with a context of the individual within a larger collection of genetic information;
- and
- using the measurement associated with the particular sequence and the contextual information to compute an improved determination of the genetic sequence at the particular site on the individual's genome, including performing a statistical analysis using the measurement associated with the particular sequence and the contextual information to determine a call with the highest probability based on the measurement and the contextual information.
Dependencies are inferred from the claim text.