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Method for removing GC preferences in euchromosomes and between chromosomes as well as detection system

An autosomal and chromosomal technology, applied in special data processing applications, instruments, electrical digital data processing, etc., can solve the problems of data distortion, difficulty, interference detection accuracy, etc.

Inactive Publication Date: 2016-08-03
杭州天译基因科技有限公司
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

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Problems solved by technology

However, this method has difficulties with sex chromosome disorders, especially Y-chromosome-related disorders, because the method may introduce slight distortions in the data, which can interfere with the accuracy of the test

Method used

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  • Method for removing GC preferences in euchromosomes and between chromosomes as well as detection system
  • Method for removing GC preferences in euchromosomes and between chromosomes as well as detection system
  • Method for removing GC preferences in euchromosomes and between chromosomes as well as detection system

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0173] A detection method for non-invasive detection of fetal autosomal aneuploidy, comprising:

[0174] 1. Sample source: Peripheral blood of pregnant women at 17 weeks of pregnancy.

[0175] 2. Detection method: Illumina Hiseq2500 was used to sequence the peripheral blood samples of pregnant women to obtain the sequencing files in BCL format. Export the data from the sequencer to the computing server, and convert the data format from BCL to fastq format. Then use the detection system of the present invention to perform detection calculations. Get the following test data:

[0176]

[0177]

[0178] The final detection result is that the Z values ​​of chromosome 13, chromosome 18, and chromosome 21 are all less than 3, and the detection result of this embodiment is an aneuploid sample.

Embodiment 2

[0180] 1. Sample source: Peripheral blood of pregnant women at 17 weeks of pregnancy.

[0181] 2. Detection method: Illumina Hiseq2500 was used to sequence the peripheral blood samples of pregnant women to obtain the sequencing files in BCL format. Export the data from the sequencer to the computing server, and convert the data format from BCL to fastq format. Then use the detection system of the present invention to perform detection calculations. Get the following test data:

[0182]

[0183]

[0184] The final test results showed that the Z values ​​of chromosome 13 and chromosome 18 were both less than 3, and the test results were aneuploid samples. The Z value of chromosome 21 was 3.961616543 greater than 3, and the test result showed that chromosome 21 was polyploid.

Embodiment 3

[0186] Sample source: Peripheral blood of pregnant women at 17 weeks of pregnancy.

[0187] 2. Detection method: Illumina Hiseq2500 was used to sequence the peripheral blood samples of pregnant women to obtain the sequencing files in BCL format. Export the data from the sequencer to the computing server, and convert the data format from BCL to fastq format. Then use the detection system of the present invention to perform detection calculations. Get the following test data:

[0188]

[0189]

[0190] The results of this example are detected abnormally, and re-sequencing detection is required.

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Abstract

The invention discloses a method for removing GC preferences in euchromosomes and between chromosomes as well as a detection system. The detection system comprises (1) a high-throughput sequencing instrument used for obtaining a whole genome sequence of a sample through high-throughput sequencing, and (2) a computer readable medium used for executing a plurality of instructions in the following steps: a, constructing a system for removing GC deviations, b, constructing another system for removing the GC deviations, and c, constructing a detection system for detecting non euploids and normal samples in samples: judging whether the samples are the non euploids or not finally according to Z values obtained by two different corrections. With the adoption of the detection system, the GC deviations are removed, so that the fetal genetic abnormality detection with higher sensitivity can be carried out while the data distortion is avoided. The detection system is used for defining parameters used for a statistic test according to the GC content. In addition, parameters in statistical sense are obtained according to a large batch of data through a Z value statistics method, so that higher accuracy can be achieved.

Description

technical field [0001] The invention relates to the field of biological detection, in particular to a method and a detection system for eliminating GC bias in autosomes and between chromosomes. Background technique [0002] Chromosomal aneuploidy is the most common chromosomal abnormality in fetuses, which can be divided into autosomal aneuploidy and sex chromosome aneuploidy according to different chromosome types. Autosomal aneuploidy includes trisomy 21 (Down syndrome), trisomy 18 (Edward syndrome) and trisomy 13 (Patau syndrome), among which trisomy 21 is the most common, The incidence rate is about 1 / 800. Sex chromosome aneuploidy mainly includes Klinefelter syndrome (47, XXY), XXY syndrome, Turner syndrome (45, X) and superfemale syndrome (47, XXX), and the male incidence is about 1 / 500 , the female incidence rate is about 1 / 850. Prenatal diagnosis of fetal chromosomal aneuploidy is an important means to reduce birth defects and improve the quality of birth populati...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): G06F19/18
Inventor 牟晓威陈帼婧屠勇军陈贤丰
Owner 杭州天译基因科技有限公司
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