Variant identification by unique data set detection

A system comprising:

• one or more data processors;
• and
• a non-transitory computer readable storage medium containing instructions which, when executed on the one or more data processors, cause the one or more data processors to perform a set of actions including:
• accessing a variant-specific unique data set, wherein the variant-specific unique data set includes a variant-inclusive portion that includes a particular variant and one or more other portions, wherein the variant-specific unique data set corresponds to a particular region of a reference data set;
• accessing a plurality of reads, each read of the plurality of reads having been generated by processing a material collected from a subject, wherein data pertaining to the material is generated by one or more facility devices to identify an ordered set of data points corresponding to the reference data set, and the variant-specific unique data set includes the ordered set of data points;
• for each read of a subset of the plurality of reads:
• generating multiple matching metrics corresponding to whether or an extent to which data points in at least part of the variant-specific unique data set and a corresponding contiguous plurality of data points in the read match, wherein the multiple matching metrics correspond to different at least parts of the variant-specific unique data set;
• determining a data set associated with the subject includes the particular variant based on a quantity of reads having a threshold confidence value in the subset;
• and
• outputting a result identified based on the particular variant.

A computer-program product tangibly embodied in a non-transitory machine-readable storage medium, including instructions configured to cause one or more data processors to perform a set of actions including:

• accessing a variant-specific unique data set, wherein the variant-specific unique data set includes a variant-inclusive portion that includes a particular variant and one or more other portions, wherein the variant-specific unique data set corresponds to a particular region of a reference data set;
• accessing a plurality of reads, each read of the plurality of reads having been generated by processing a material collected from a subject, wherein data pertaining to the material is generated by one or more facility devices to identify an ordered set of data points corresponding to the reference data set, and the variant-specific unique data set includes the ordered set of data points;
• for each read of a subset of the plurality of reads:
• generating multiple matching metrics corresponding to whether or an extent to which data points in at least part of the variant-specific unique data set and a corresponding contiguous plurality of data points in the read match, wherein the multiple matching metrics correspond to different at least parts of the variant-specific unique data set;
• determining a data set associated with the subject includes the particular variant based on a quantity of reads having a threshold confidence value in the subset;
• and
• outputting a result identified based on the particular variant.