Methods and Systems for Variant Detection

A system for detecting variants in electropherogram data comprising one or more nucleic acid sequences, the system comprising:

• an input module configured to receive electropherogram data from a Sanger sequencing instrument;
• a mixed base variant validator module to identify mixed bases in the electropherogram data by detecting an orientation of each of the one or more nucleic acid sequences, and validate the identified mixed bases by extracting peak location data for each of four electropherogram channels from the electropherogram data;
• and
• a variant caller configured to determine variants in the electropherogram data based on the extracted peak location of the validated mixed bases.

A computer-readable storage medium encoded with processor executable instructions for detecting variants in electropherogram data comprising one or more nucleic acid sequences, the instructions comprising instructions for:

• receiving electropherogram data from an Sanger sequence instrument;
• analyzing the electropherogram data to identify mixed bases in the electropherogram data by detecting an orientation of each of the one or more nucleic acid sequences;
• validating the identified mixed bases by extracting peak location data for each of four electropherogram channels;
• and
• determining variants in the electropherogram data based on the extracted peak location data of the validated mixed bases.