Abstract: Provided are a method, system, and computer-readable medium for determining whether a copy number variation exists in a sample genome. The method includes sequencing a sample genome to obtain a sequencing result formed by multiple reads; comparing the sequencing result with a reference genome sequence to determine the distribution of the reads on the reference genome sequence; determining, based on the distribution of the reads on the reference genome sequence, multiple breakpoints on the reference genome sequence, wherein the number of the reads on either side of each breakpoint are significantly different; determining, based on the plurality of breakpoints, a detection window on the reference genome; determining, based on the reads falling in the detection window, a parameter; and determining, based on the difference between the first parameter and a preset threshold, whether a copy number variation exists in the sample genome against the detection window.

Abstract: The present invention relates to a method for detecting genetic variation, comprising the following steps: acquiring reads from a test sample; aligning said reads with a reference genome sequence; dividing said reference genome sequence into windows, calculating the number of said reads which are aligned to each window, and acquiring the statistic for each window on the basis of the number of said reads; and for a fragment of the reference genome sequence, acquiring the genetic variation sites on the basis of the change in the statistics of all the windows thereon in the fragment of the reference genome sequence.

Abstract: The present invention provides a method and system for determining whether a genomic abnormality exists. The method for determining whether a genomic abnormality exists includes the steps of: separating fetal nucleated red blood cells from a sample from a pregnant woman; sequencing at least a part of the genome of the nucleated red blood cells, so as to obtain a sequencing result; and on the basis of the sequencing result, determining whether a genomic abnormality exists in the nucleated red blood cells.

Abstract: Provided are a method of constructing a nucleic acid library, a method of determining a nucleic acid sequence of a nucleic acid sample, and a kit thereof. The method of constructing the nucleic acid library includes the following steps: subjecting a nucleic acid sample to a DOP-PCR amplification, to obtain a first PCR amplification product; subjecting the first PCR amplification product to a second PCR amplification using a DOP-Amp primer, to obtain a second PCR amplification product; and subjecting the second PCR amplification product to an adaptor-ligation PCR, to obtain a third PCR amplification product, wherein the third PCR amplification product constitutes the nucleic acid library.

Abstract: The present invention relates to the field of genomic mutation detection, and in particular, to the detection of the copy number variation (CNV) in cellular chromosomal DNA fragments. The present invention also relates to the detection of diseases related to the copy number variation in the cellular chromosomal DNA fragments.

Abstract: Disclosed are a method of detecting a pre-determined event in a nucleic acid sample and a system thereof. The method of detecting the pre-determined event in the nucleic acid sample comprises the following steps: constructing a sequencing-library for the nucleic acid sample; sequencing the sequencing-library to obtain a sequencing result consisting of a plurality of sequencing data; determining the sequencing data from a pre-determined region; and determining an occurrence of the pre-determined event in the nucleic acid sample based on a composition of the sequencing data from the pre-determined region.

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: A method for analyzing a genome of a single cell is provided, and a kit is also provided. The method for analyzing the genome of the single cell may comprise separating and lysing the single cell to obtain a whole-genome DNA of the cell; subjecting the whole-genome DNA to a whole-genome amplification to obtain a whole-genome amplification product; performing a PCR amplification using the whole-genome amplification product as template and using housekeeping-gene-specific primers to detect the housekeeping gene of the whole-genome amplification product; and determining whether the whole genome amplification product meets a requirement for sequencing based on the detection result, wherein a uniform distribution of the amplification product in each chromosome is an indication of the amplification product meeting the requirement for sequencing.

Abstract: A method and an apparatus for genome assembly are provided.

Abstract: The present invention provides a high-throughput sequencing method for methylated DNA, and use thereof. Particularly, the present invention provides a high-throughput sequencing method for methylated DNA, which combines methylated DNA immunoprecipitation, removal of repetitive sequences, and bisulfite treatment. The site of sequencing library will be decreased, and the cost will be reduced by using the method disclosed in the present invention.

Abstract: The present invention involves an analysis method of cellular chromosomes, particularly involves a method of analyzing whether a difference exists in the chromosome number between amniotic cells and standard cells by a sequencing method.

Abstract: A method and apparatus for high-throughput identity confirmation, quantitation and purity determination of a compound of interest in a mixture of compounds is disclosed. According to the method, a chemical mixture, such as may be obtained from a chemical library, is processed to obtain a stream having a time-varying composition, such as by using a high pressure liquid chromatograph. The stream is split into two portions or streams for substantially contemporaneous detection in a compound-identifying device, such as a mass spectrograph, and in a compound-quantitating device, such as an evaporative light scattering detector. A peak in a chromatogram obtained from the compound-quantitating device is identified as the compound of interest by cross-correlation, via elution time, with chromatographic results obtained from the compound-identifying device. Once the peak is identified as corresponding to the compound of interest, the corresponding peak area is used for quantitation and purity determination.

Abstract: A method and apparatus for high-throughput identity confirmation, quantitation and purity determination of a compound of interest in a mixture of compounds is disclosed. According to the method, a chemical mixture, such as may be obtained from a chemical library, is processed to obtain a stream having a time-varying composition, such as by using a high pressure liquid chromatograph. The stream is split into two portions or streams for substantially contemporaneous detection in a compound-identifying device, such as a mass spectrograph, and in a compound-quantitating device, such as an evaporative light scattering detector. A peak in a chromatogram obtained from the compound-quantitating device is identified as the compound of interest by cross-correlation, via elution time, with chromatographic results obtained from the compound-identifying device. Once the peak is identified as corresponding to the compound of interest, the corresponding peak area is used for quantitation and purity determination.