Method for determining fetal fraction in maternal sample
AssigneeTheragen Genomecare Co., Ltd.
InventorSun Shin KIM
Life of this patent
Estimating the term…
Abstract
Provided are a method of determining a fetal fraction and a computer readable medium, in which a program to be applied for performing the method is recorded. According to the method, when the fetal fraction is estimated in an optimal bin different from the predetermined chromosome bin (50 kb), the fetal fraction may be more accurately determined. Therefore, the fetal fraction may be measured with higher accuracy using the same training sample size.
Claims17
A method of determining a fetal fraction in a biological sample of a pregnant woman, the method comprising:
- generating training data and test data by obtaining sequence information (reads) of a plurality of nucleic acid fragments from a biological sample of a pregnant woman;
- setting a chromosome bin divided by constant bin based on a reference chromosome;
- generating a parameter from the training data;
- measuring a fetal fraction from the test data using the generated parameter;
- selecting a bin having a high correlation between the measured fetal fraction and the standard fetal fraction by repeating the steps of generating the parameter and measuring the fetal fraction while increasing the bin size based on the reference chromosome;
- generating a second parameter having an increased correlation between the measured fetal fraction and the standard fetal fraction while increasing the size of the training data in the selected bin;
- and
- measuring a fetal fraction from the test data using the generated second parameter.
A method of determining a fetal fraction in a biological sample of a pregnant woman, the method comprising:
- generating test data by obtaining sequence information of a plurality of nucleic acid fragments from a biological sample of a pregnant woman;
- setting a chromosome bin in units of 100 kb to 900 Kb based on a reference chromosome;
- generating a read count, a read size, or a combination thereof as a parameter from the training data;
- and
- measuring a fetal fraction from the test data using the generated parameter.
Dependencies are inferred from the claim text.