Abstract: Disclosed are a method and a device for labelling single nucleotide polymorphism site in a genome. The above-mentioned method comprises: the single-end RAD sequences from the genomes of two individuals are obtained; the single-end RAD sequences are filtered to remove unqualified sequences; the sequencing depth of the sequences from the genomes of two individuals is aligned in pairs and without gaps to determine the SNP sites.

Abstract: Provided is a method and system of reconstructing a haplotype of a diploid. The method can include constructing a matrix of sequence fragments consisting of ternary character based on sequence fragments comprising at least one common site, wherein in the matrix of sequence fragments, two allelic bases of an SNP site in chromosome fragments are labeled with A and B respectively; initializing two fragment sets of based on the matrix of sequence fragments; determining an objective function and an initial reference temperature; performing a process of simulated annealing based on the objective function and the initial reference temperature, and outputting final sets until a convergence criteria is achieved; inferring a haplotype based on the final sets by means of minimum error correction.

Abstract: Provided is a transcriptome assembly method, comprising the following steps of: constructing a sequencing sample transcriptome read into a de Brujin graph; performing filtering and linearization processing on the de Brujin graph, so as to form continuous contigs; obtaining association among the contigs, and filtering association data; performing linearization processing on a continuous sequence without bifurcation; outputting a contig sequence; comparing the read and an end pairing read with the output contig sequence, so as to obtain information between the read and the contig; establishing connections among the contigs, so as to construct a graph with the contigs as points and the connections as edges; pre-processing and dividing the obtained graph, so as to obtain independent sub-graphs; and outputting a transcript according to the sub-graphs. Further provided is a transcriptome assembly system based on the method.

Abstract: Provided are a method and a system for identifying whether the twins are dizygotic twins, the method comprising: typing at least one polymorphic loci of the twins fetuses to obtain the fetal polymorphism types, comparing the fetal polymorphism types with the corresponding polymorphism types of their parents, determining whether the twins are dizygotic twins on the basis of the comparison result.

Abstract: Provided are a method, system and computer readable medium for determining the base information in a predetermined area of a fetus genome, the method comprising following steps: constructing a sequence library for the DNA samples of the fetus genome; sequencing the sequence library to obtain the sequencing result of the fetus, the sequencing result of the fetus comprised of a plurality of sequencing data; and based on the sequencing result of the fetus, determining the base information in the predetermined area according to the hidden Markov model in conjunction with the genetic information of an individual related hereditarily to the fetus.

Abstract: Disclosed are a method and a system for determining genome copy number variation, which relates to the technical field of bioinformatics. The method comprises obtaining reads; determining sequence labels according to the reads; counting the number of sequence labels falling into each window; performing GC correction on the sequence label number of each window and a correction according to an expected sequence label number adjusted by a control set to obtain a corrected sequence label number; selecting a demarcation point with a small significance value as a candidate CNV breaking point; rejecting the least significant candidate CNV breaking point at every turn, updating difference significance values of two candidate CNV breaking points on the left and right of the rejected candidate CNV breaking point and performing cyclic iteration until difference significance values of all candidate CNV breaking points are smaller than a termination threshold value, thereby determining a CNV breaking point.

Abstract: The present invention provides use of Roseburia in the preparation of composition for prevention and/or treatment of obesity related diseases. Also provided are a composition used in the treatment and prevention for obesity related diseases, comprising pharmaceutical, drink, food, and/or animal feed composition, etc; and a method of reducing body weight and/or blood glucose.

Abstract: A method for detecting hydroxymethylation modification in nucleic acid comprises: glycosylating the nucleic acid, digesting with MspI, ligating the digested fragments to a biotin-labeled linker at both ends thereof, digesting with NlaIII; capturing the digested fragments using streptavidin magnetic beads to produce fragments having the biotin-labeled linker at one end and a CATG 4-base sticky end at the other end, wherein these fragments reveal modification information of their adjacent CCGG sites; ligating the CATG sticky end to a linker containing a recognition site of MmeI or Ecop15I, digesting with corresponding restriction endonuclease to produce short sequence fragments that can reveal modification information of their adjacent CCGG sites; and performing a tag number comparison to obtain information about methylation and hydroxymethylation modification relative levels. A use of the method is also provided.

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: Provided is a method for detecting DNA methylation based on MspJI cleavage and performing bioinformatics analysis of genomic methylation.

Abstract: Provided is a method of gap closing in nucleotide sequence. The nucleic acid sequence comprises a first contig at one end of a gap in an unassembled region, and a second contig at the other end of the gap in the unassembled region.

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 is a method of detecting method of detecting fusion transcripts in a sample to be analyzed.

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 present invention provides use of Roseburia in the preparation of composition for prevention and/or treatment of obesity related diseases. Also provided are a composition used in the treatment and prevention for obesity related diseases, comprising pharmaceutical, drink, food, and/or animal feed composition, etc; and a method of reducing body weight and/or blood glucose.

Abstract: The present invention provides an error correcting method of test sequence, which involves receiving test sequences, configuring high frequency short string list based on a preset high frequency threshold value, traversing each received test sequence, searching an area with the largest number of continuous high frequency short strings on each test sequence in combination with high frequency short string list, configuring whole left sequence and/or right sequence of high frequency short strings at left side and/or right side of searched area according to corresponding received test sequence and high frequency short string list, and constituting corresponding test sequence according to configured left and/or right sequence and searched area. The present invention also provides corresponding error correcting system of test sequence and gene assembly equipment.

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 an error correcting method of test sequence, which involves receiving test sequences, configuring high frequency short string list based on a preset high frequency threshold value, traversing each received test sequence, searching an area with the largest number of continuous high frequency short strings on each test sequence in combination with high frequency short string list, configuring whole left sequence and/or right sequence of high frequency short strings at left side and/or right side of searched area according to corresponding received test sequence and high frequency short string list, and constituting corresponding test sequence according to configured left and/or right sequence and searched area. The present invention also provides corresponding error correcting system of test sequence and gene assembly equipment.

Abstract: The present invention relates to gene engineering filed, and provides a genome sequencing device, construction method of fragments assembling scaffold and system thereof. The method comprises the following steps: mapping the double-barreled data obtained through sequencing to contigs; calculating the mean length between contigs based on multiple pairs of double-barreled data mapped to contigs, which is taken as the gap size between contigs; constructing scaffold based on gap size between contigs and the double-barreled relation between contigs; and obtaining complete scaffold graph. Since the mean length between contigs is calculated from multiple pairs of double-barreled data and is taken as the gap size between contigs, the estimation precision of gap size between contigs is improved greatly. It can be used for genome sequencing including short sequencing read length to finish task of assembling sequencing fragments.