Bgi Genomics Co., Limited

Bgi Shenzhen

Bgi-Shenzhen Co., Limited

Bgi Diagnosis Co., Ltd.

Shengpei Chen

Hui Fu Jiang

Fang Zhou Chen

Xiuqing Zhang

Jun Wang

Jian Wang

Jing Guo

Fan Fan

Huanming Yang

Shida Zhu

Fang Chen

Huijuan Ge

Weiwei Xie

Xuyang Yin

Chunlei Zhang

Haojun Jiang

Xuchao Li

Xiaoyu Pan

Hui Jiang

Jialou Zhu

Shang Yi

Chunsheng Zhang

Jing Zheng

Disclosed are a method and a system for determining genome copy number variation, which relates to the technical field of bioinformatics. The method and the system 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.

Method and system for determining copy number variation

The present invention provides a method for determining the nucleic acid composition in a total nucleic acid mixture comprising a first nucleic acid and a second nucleic acid. The method comprises: 1) treating the total nucleic acid mixture with a bisulfate, to convert the non-methylated cytosine in the total nucleic acid mixture into uracil, and obtain a converted total nucleic acid mixture; 2) subjecting the converted total nucleic acid mixture to multiplexed fluorescent quantitative PCR using a first set of amplification primers and a second set of amplification primers; and 3) based on the ratio R of the methylated amplification product to the non-methylated amplification product of the predetermined nucleic acid fragment, a methylation proportion Mof the predetermined nucleic acid fragment in the first nucleic acid, and a methylation proportion Mof the predetermined nucleic acid fragment in the second nucleic acid, determining the nucleic acid composition in the total nucleic acid mixture.

Method for determining nucleic acid composition of nucleic acid mixture

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.

Method for preparing nucleic acid library, its uses and kits

Growing community of inventors

Shenzhen, China

Shengpei Chen