Systems and Methods for Analysis and Interpretation of Nucleic Acid Sequence Data

摘要

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.

主权项

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.