Systems and methods for reconciling variants in sequence data relative to reference sequence data
AssigneeSeven Bridges Genomics Inc.
InventorAmit Jain
Life of this patent
Estimating the term…
Abstract
Techniques for identifying variations in sequence data relative to reference sequence data. The techniques include accessing information specifying multiple sets of variants in the sequence data relative to reference sequence data, each of the multiple sets of variants being generated by using a respective variant identification technique; and determining, using the information specifying the multiple sets of variants in the sequence data, a reconciled set of variants in the sequence data relative to the reference sequence data, the determining comprising: determining whether a first variant is present at a first position in the sequence data based, at least in part, on one or more variants at one or more other positions in the sequence data.
Claims20
A system for identifying variations in sequence data relative to reference sequence data, 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 perform:
- accessing information specifying multiple sets of variants in the sequence data relative to reference sequence data, each of the multiple sets of variants being generated by using a respective variant identification technique;
- and
- determining, using the information specifying the multiple sets of variants in the sequence data, a reconciled set of variants in the sequence data relative to the reference sequence data, the determining comprising:
- determining whether a first variant is present at a first position in the sequence data based, at least in part, on one or more variants at one or more other positions in the sequence data.
A method for identifying variations in sequence data relative to reference sequence data, the method comprising:
- using at least one computer hardware processor to perform:
- accessing information specifying multiple sets of variants in the sequence data relative to the reference sequence data, each of the multiple sets of variants being generated by using a respective variant identification technique;
- and
- determining, using the information specifying the multiple sets of variants in the sequence data, a reconciled set of variants in the sequence data relative to the reference sequence data, the determining comprising:
- determining whether a first variant is present at a first position in the sequence data based, at least in part, on one or more variants at one or more other positions in the sequence data.
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 perform:
- accessing information specifying multiple sets of variants in sequence data relative to reference sequence data, each of the multiple sets of variants being generated by using a respective variant identification technique;
- and
- determining, using the information specifying the multiple sets of variants in the sequence data, a reconciled set of variants in the sequence data relative to the reference sequence data, the determining comprising:
- determining whether a first variant is present at a first position in the sequence data based, at least in part, on one or more variants at one or more other positions in the sequence data.
Dependencies are inferred from the claim text.