Sequencing output determination and analysis with target-associated molecules in quantification associated with biological targets

A method for facilitating characterization of a medical condition from a sample comprising target molecules, the method comprising:

• generating a set of target-associated molecules comprising a target-associated sequence comprising:
• a first target-associated region with sequence similarity to a first target sequence region of a target sequence of a biological target, wherein the biological target is associated with the genetic disorder;
• and
• a target variation region with sequence dissimilarity to a sequence region of the target sequence;
• performing Sanger sequencing based on the set of target-associated molecules and the target molecules comprising the target sequence, to determine at least one chromatogram-related output comprising a first set of peaks associated with the first target-associated region, the first target sequence region of the biological target, the target variation region, and the sequence region of the biological target;
• determining a set of target-associated abundance metrics for a set of different pairs of bases based on the first set of peaks of the at least one chromatogram-related output, wherein each different pair of bases, from the set of different pairs of bases, corresponds to a pair of a base of the target-associated sequence and a base of the target sequence;
• and
• facilitating the characterization of the medical condition based on the set of target-associated abundance metrics and a set of reference-associated abundance metrics describing abundance of a biological reference relative reference-associated molecules.

A method for biological target quantification from a sample comprising target molecules, the method comprising:

• determining at least one chromatogram-related output associated with a first set of target-associated molecules and a set of target molecules, based on Sanger sequencing associated with the first set of target-associated molecules and the set of target molecules, wherein the first set of target-associated molecules comprises a first target-associated sequence comprising:
• a first target-associated region with sequence similarity to a first target sequence region of a first target sequence of a biological target, wherein the set of target molecules comprises the first target sequence region;
• and
• a target variation region with sequence dissimilarity to a sequence region of the first target sequence;
• determining a first set of target-associated abundance metrics for different sets of bases based on the at least one chromatogram-related output, wherein each different set of bases, from the different sets of bases, comprises at least one base of the first target-associated sequence and at least one base of the first target sequence;
• and
• determining a first overall abundance metric describing a first abundance of the biological target for the sample, based on the first set of target-associated abundance metrics.