Automated nucleic acid repeat count calling methods

A computer-implemented method for determining a genotype associated with Fragile X syndrome in an individual, the method comprising:

• a) performing DNA amplification reaction using a primer set comprising a first primer recognizing the CGG-rich region on the 5′ UTR of the FMR1 gene and a second primer recognizing a region outside of the CGG-rich region on the 5′ UTR of the FMR1 gene;
• b) resolving the DNA amplification products to obtain DNA size and abundance data;
• c) applying a low-pass filter and a band-pass filter to the DNA size and abundance data to identify a peak representing a number of CGG repeats in the CGG-rich region on the 5′ UTR of the FMR1 gene;
• and
• d) determining the genotype of the individual based on the identified peak.

A computer-implemented method for determining the number of nucleic acid repeats in a DNA comprising a nucleic acid repeat region, the method comprising:

• a) receiving, by one or more processors, DNA size and abundance data of DNA amplification products generated from the DNA comprising the nucleic acid repeat region by using a primer set comprising a first primer recognizing the nucleic acid repeat region and a second primer recognizing a region outside of the nucleic acid repeat region;
• b) generating, by the one or more processors, a set of sample data by sampling the DNA size and abundance data at a sampling frequency;
• c) generating, by the one or more processors, a set of low-pass data by applying a low-pass filter to the set of sample data;
• d) generating, by the one or more processors, a set of band-pass data by applying a band-pass filter to the set of sample data;
• e) identifying, by the one or more processors, one or more peaks in the low-pass data;
• f) identifying, by the one or more processors, one or more peaks in the band-pass data;
• and
• g) identifying, by the one or more processors, a final peak representing a number of nucleic acid repeats in the nucleic acid repeat region based on the one or more peaks in the low-pass data and the one or more peaks in the band-pass data.