AUTOMATED NUCLEIC ACID REPEAT COUNT CALLING METHODS

摘要

The present disclosure relates to processes for determining the number of nucleic acid repeats in a DNA fragment comprising a nucleic acid repeat region. One example method may include receiving DNA size and abundance data generated by resolving DNA amplification products. A set of low-pass data may be generated by applying a low-pass filter to the DNA size and abundance data and a set of band-pass data may be generated by applying a band-pass filter to the DNA size and abundance data. A peak of the DNA size and abundance data representative of a number of nucleic acid repeats in the DNA may be identified based on peaks identified from the low-pass data and the band-pass data.

主权项

1. A computer-implemented method for determining the number of CGG repeats in a DNA comprising a CGG-rich 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 CGG-rich region by using a primer set comprising a first primer recognizing the CGG-rich region and a second primer recognizing a region outside of the CGG-rich 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 CGG repeats in the CGG-rich region based on the one or more peaks in the low-pass data and the one or more peaks in the band-pass data.