Methods for Detection of Fetal Chromosomal Abnormality Using High Throughput Sequencing

摘要

Disclosed are methods for non-invasively detecting fetal chromosomal abnormality in maternal samples using high throughput sequencing technologies. The present invention provides a method to minimize the influence of G/C-content in analyzing sequencing data and thus increase the sensitivity and accuracy in detecting any aneuploid chromosome in a genome. This method is especially helpful for analyzing sequencing data with lower quality or low coverage.