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METHOD FOR DETERMINING THE PROBABILITY OF THE RISK OF CHROMOSOMAL AND GENETIC DISORDERS FROM FREE DNA OF FETAL ORIGIN
METHOD FOR DETERMINING THE PROBABILITY OF THE RISK OF CHROMOSOMAL AND GENETIC DISORDERS FROM FREE DNA OF FETAL ORIGIN
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机译：确定胎儿源自自由DNA染色体和遗传疾病风险概率的方法
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摘要
The present invention relates to a method for determining the probability of the risk of chromosomal and genetic disorders from free DNA of fetal origin comprising the steps of extracting free DNA of fetal origin from a sample of maternal plasma previously collected, sequencing of free DNA of fetal origin extracted, storing the sequencing in FASTQ format including biological sequences and quality scores of biological sequences, converting the sequencing from FASTQ format to SAM format, converting the sequencing from SAM format to BAM format, counting and categorizing the READ sequenced from SAM format, calculating the ratio between the number of READs mapped on each chromosome and the number of READs mapped on all autosomes, defining a predetermined reference sample, calculating the z-score on a chromosome of interest with respect to the predetermined reference sample and determining the probability of risk of anomaly on the chromosome of interest if the z-score is higher than a predetermined value.
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