Method for establishing and providing simulated data set required by CNV detection based on unknown CNV (Copy Number Variations) samples

A technology for establishing methods and simulating data, applied in the field of bioinformatics, which can solve problems such as reducing detection costs

Active Publication Date: 2018-11-06
BEIJING CAPITALBIO MEDLAB CO LTD
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

The method of the present invention not only greatly reduces the detection cost, but also solves the problem of sequencing preference caused by unknown reasons

Method used

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  • Method for establishing and providing simulated data set required by CNV detection based on unknown CNV (Copy Number Variations) samples
  • Method for establishing and providing simulated data set required by CNV detection based on unknown CNV (Copy Number Variations) samples
  • Method for establishing and providing simulated data set required by CNV detection based on unknown CNV (Copy Number Variations) samples

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0081] The establishment of embodiment 1 simulation data set

[0082] 1. Sample collection

[0083] A total of 497 abortion tissue samples were collected, including 1 abortion tissue sample from a male who did not have a miscarriage due to chromosomal abnormalities. All the subjects signed the informed consent.

[0084] 2. DNA extraction

[0085] The kit used for DNA extraction is: blood tissue cell genome extraction kit (DP304) purchased from Tiangen Company

[0086] Fill in the "Tissue Genomic DNA Extraction Operation Record Sheet (Tiangen)".

[0087] 2.1 Experimental preparation

[0088] All the following experimental procedures were carried out at room temperature (15–25°C).

[0089] Thaw tissue samples at room temperature.

[0090] Turn on the constant temperature oscillator and adjust to 56°C.

[0091] Before using Buffer GD and PW, please pay attention to whether absolute ethanol is added according to the configuration requirements and mixed upside down; unopened ...

Embodiment 2

[0244] Verification of the applicability and accuracy of embodiment 2 method

[0245] 1. Sample collection

[0246] 400 cases of abortion tissue samples that were not involved in the construction of the prediction model in Example 1; blood samples of 10 cases of patients with abnormal reproductive history and 8 cases of DNA samples of international standard (source: coriell company https: / / www.coriell.org / , No. NA12662, NA12074, NA20305, NA14943, NA13277, NA06230, NA22569, NA01723) for verification.

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Abstract

The invention discloses a method for establishing and providing a simulated data set required by CNV detection based on unknown CNV (Copy Number Variations) samples. According to the method provided by the invention, sequence data of normal samples are simulated and generated, the sample sequencing cost is reduced, the sequencing preference problem resulting from the deficiency of paired samples and unknown causes is solved, and the detection accuracy is improved.

Description

technical field [0001] The invention belongs to the field of bioinformatics and discloses a method for establishing and providing a simulation data set required for CNV detection based on an unknown CNV sample. Background technique [0002] Copy Number Variations (CopyNumberVariations, CNV) refers to the abnormal copy number of chromosomes or chromosome segments in the sample genome compared with the genome reference sequence, including but not limited to chromosome aneuploidy, deletion, duplication, microdeletion, microdeletion greater than 1000 bp repeat. In the field of biomedical scientific research and clinical application, diseases caused by genome copy number variation are often encountered, such as chromosomal aneuploidy, microdeletion, miscarriage caused by microduplication, embryo implantation failure, various genetic diseases and cancer and more. The detection of genomic copy number variation can be applied to tissue detection such as tumor tissue, amniotic flui...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): G06F19/12G06F19/24G06F19/18C12Q1/6869
CPCC12Q1/6869C12Q2535/122
Inventor 徐寒石刘红杰钱睿王国青邓涛
Owner BEIJING CAPITALBIO MEDLAB CO LTD
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