Systems and Methods for Analysis and Interpretation of Nucleic Acid Sequence Data
First Claim
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1. A system, comprising:
- a first data store configured to store genetic sequence information comprising called variants;
a second data store configured to store sequence annotation data;
an annotations component communicatively connected with the first data store and the second data store, comprising;
a functional annotations engine configured to;
receive the called variants from the first data store, andassociate functional type annotations from the second data store with the called variants, andan interpretive annotations engine configured to;
receive the called variants from the first data store, andassociate interpretive type annotations from the second data store with the called variants;
a reporting module communicatively connected with the first data store and the second data store and configured to generate a report of the called variants, the functional annotations, and the interpretive annotations.
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Abstract
Systems and method for annotating variants within a genome can call variants from reads or receive called variants directly and associate the called variants with functional annotations and interpretive annotations. A summary report of the called variants, the associated functional annotations, and the associated interpretive annotations can be generated.
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Citations
19 Claims
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1. A system, comprising:
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a first data store configured to store genetic sequence information comprising called variants; a second data store configured to store sequence annotation data; an annotations component communicatively connected with the first data store and the second data store, comprising; a functional annotations engine configured to; receive the called variants from the first data store, and associate functional type annotations from the second data store with the called variants, and an interpretive annotations engine configured to; receive the called variants from the first data store, and associate interpretive type annotations from the second data store with the called variants; a reporting module communicatively connected with the first data store and the second data store and configured to generate a report of the called variants, the functional annotations, and the interpretive annotations. - View Dependent Claims (2, 3, 4, 5, 6, 7, 8, 9, 10)
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11. A computer implemented method, comprising:
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receiving the called variants from a first data store configured to store genetic sequence information comprising called variants, and associating the called variants with functional type annotations from the second data store configured to store sequence annotation data, and associating the called variants with interpretive type annotations from the second data store; generating a report of the called variants, the functional annotations, and the interpretive annotations; and providing the report to a first user - View Dependent Claims (12, 13, 14, 15, 16, 17, 18)
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19. A system, comprising:
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a first data store configured to store genetic sequence information comprising called variants; a second data store configured to store sequence annotation data; an annotations component communicatively connected with the first data store and the second data store, comprising; an annotations engine configured to; receive the called variants from the first data store, and associate annotations from the second data store with the called variants, and a reporter module communicatively connected with the first data store and the second data store and configured to; select sentence templates corresponding to associated annotations; generate report paragraphs based on the annotations and the selected sentence templates; and provide a report including the report paragraphs for the called variants and the associated annotations.
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Specification