Variant detection of sequencing assays
AssigneeGood Start Genetics, Inc.
InventorsAthurva Gore, Eric Tsung, Gregory Porreca
Life of this patent
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Abstract
Methods for improving variant protection are provided. The methods include the steps of generating an in silico genome map that includes a primary path, and a secondary path comprising variants that were missed or incorrectly called in a sequence assembly simulation, aligning the secondary path to the primary path, convoluting the second path to the primary path, and identifying the variants based upon reads that align with the secondary path but not the primary path. All of method steps can be carried out using a computer. Systems incorporated these methods are also included.
Claims9
A method for improving variant detection, the method comprising:
- generating an in silico genome map comprising:
- a primary path;
- and
- a secondary path comprising variants that were missed or incorrectly called in a sequence assembly simulation;
- aligning the secondary path to the primary path;
- convoluting the second path to the primary path;
- and
- identifying the variants based upon reads that align with the secondary path but not the primary path.
A method for improving variant detection of a genetic test, the method comprising:
- generating an in silico genome map:
- a primary path;
- and
- a secondary path comprising variants that were missed or incorrectly called in a sequence assembly simulation;
- analyzing, using the computer, a plurality of sequence reads generated by sequencing nucleic acid from a sample to determine whether the test is able to identify the variants based on the alignment of the reads to the in silico genome map.
Dependencies are inferred from the claim text.