VARIANT-CALLING ON DATA FROM AMPLICON-BASED SEQUENCING METHODS

摘要

The invention provides systems and methods for calling variants in data from amplicon-based sequencing methods by aligning and assembling reads, associating the reads with their source amplicons, treating each amplicon as a separate sample or file, calling variants on the reads. A portion of each read is aligned to the primer binding site of the associated amplicons. Variants called at sites in the mapped portions of each read are discarded. The remaining variant calls are merged, to provide a set of variant calls across the original target region.

主权项

1. A system for identifying a mutation, the system comprising a processor coupled to a tangible memory subsystem storing instructions that when executed by the processor cause the system to:
identify a variant, relative to a reference, in a sequence read from an amplicon; and discard the identified variant without reporting the identified variant as an identified variant if the identified variant maps to the reference within a recognition site for a primer that created the amplicon.