BGI Diagnosis Co.

Shenzhen, China

BGI Diagnosis Co.

Shenzhen, China
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Patent
BGI Diagnosis Co. | Date: 2015-02-11

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 a read sequence; determining sequence labels according to the read sequence; counting the number of sequence labels falling into each window; performing GC correction on the sequence label number of each window and performing amendment according to an expected sequence label number amended with a contrast sample set to obtain an adjusted 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. The method and the system of the present invention have clinical feasibility, and can precisely detect a micro-deletion/micro-duplication area of 0.5 M under the situation of using data of about 50 M.


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.


Patent
BGI Diagnosis Co. | Date: 2014-10-22

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.


Provided are a method for determining whether a copy number variation exists in a sample genome, a system applied to implement the method, and a computer-readable medium. The method for determining whether a copy number variation exists in a sample genome comprises the steps of: sequencing the sample genome to obtain a sequencing result formed by multiple reads; comparing the sequencing result with a reference genome sequence, so as 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 with respect to the detection window.


Patent
BGI Diagnosis Co. | Date: 2014-09-03

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.


Patent
BGI Diagnosis Co. | Date: 2015-04-15

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.


Patent
BGI Diagnosis Co. | Date: 2015-01-07

A method and a device for detecting microdeletion in a chromosome sequence tagged site (STS) area. The method comprises: selecting an STS area on chromosome, and designing according to a DNA sequence in the STS area to obtain a corresponding capture probe; hybridizing the capture probe and a multi-sample DNA hybrid library, so as to capture the DNA sequence in the STS area in the multi-sample; sequencing the captured DNA sequence in the STS area in the multi-sample of the corresponding capture probe, and obtaining sequencing data; analyzing the sequencing data through a mathematical statistics method, and obtaining a result regarding microdeletion in the chromosome STS area of each sample according to the analysis conclusion.


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.


Patent
Bgi Diagnosis Co. | Date: 2012-05-23

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.


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.

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