Abstract: Provided are an NLP-based method for constructing a variant literature interpretation knowledge base, an interpretation method, and an electronic device. The method for constructing the variant literature interpretation knowledge base includes: obtaining disease-related literature; constructing, based on the disease-related literature, a database of entities associated with genes and variants; constructing a literature evidence knowledge graph for interpretation of variant literature; and performing evidence extraction on the literature evidence knowledge graph to obtain evidence corresponding to an entity, and constructing, based on the evidence and the database, the variant literature interpretation knowledge base. In this way, the literature evidences can be more comprehensive and systematic.

Abstract: Provided is a method for determining whether a fetus has chromosomal aneuploidy, the method comprising: the method comprises: (1) obtaining nucleic acid sequencing data from a pregnant woman sample; (2) determining a fetal fraction of the pregnant woman sample and an estimated fraction by a predetermined chromosome based on the nucleic acid sequencing data; (3) determining a first feature based on a difference between the estimated fraction by a chromosome to be tested and the estimated fraction by a second comparison chromosome, and determining a second feature based on a difference between the estimated fraction by the chromosome to be tested and the fetal fraction; and (4) determining whether the fetus has an aneuploidy for the chromosome to be tested based on the first feature and the second feature by using corresponding data of control sample, wherein the control sample comprises a positive sample and a negative sample, the positive sample has an aneuploidy for the chromosome to be tested, and the negat

Abstract: Provided in the present disclosure are a method and a device for determining a fraction of cell free nucleic acids in a biological sample and use thereof, wherein the method comprises: (1) sequencing nucleic acids of a biological sample having free nucleic acids, in order to obtain sequencing results for a plurality of sequencing data; (2) based on the sequencing results, determining the number of nucleic acid molecules with a length falling within a preset range in the sample; and (3) based on the number of nucleic acid molecules with a length falling within the preset range, determining the ratio of free nucleic acids in the biological sample.

Abstract: The current invention is directed to methods for noninvasive detection of fetal genetic abnormalities by large-scale sequencing of nucleotides from maternal biological sample. Further provided are methods to remove GC bias from the sequencing results according to the difference in GC content of a chromosome. The current invention not only makes the detection much more accurate but also represents a comprehensive method for fetal aneuploidy detection including sex chromosome disorders such as XO, XXX, XXY, and XYY, etc.

Abstract: The current invention is directed to methods for noninvasive detection of fetal genetic abnormalities by large-scale sequencing of nucleotides from maternal biological sample. Further provided are methods to remove GC bias from the sequencing results according to the difference in GC content of a chromosome. The current invention not only makes the detection much more accurate but also represents a comprehensive method for fetal aneuploidy detection including sex chromosome disorders such as XO, XXX, XXY, and XYY, etc.