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Chromosome aneuploidy detection method, device and system

An aneuploidy and chromosome technology, applied in the field of bioinformatics, can solve problems such as high morbidity and mortality, and achieve high sensitivity and accuracy

Pending Publication Date: 2018-09-28
GENEMIND BIOSCIENCES CO LTD
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Problems solved by technology

These chromosomal aneuploidies lead to high morbidity and mortality. Amniocentesis and chorionic villus sampling are the standard methods for diagnosing fetal chromosomal abnormalities, but these diagnostic methods themselves have a miscarriage rate as high as 0.6% to 1.9%.

Method used

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  • Chromosome aneuploidy detection method, device and system
  • Chromosome aneuploidy detection method, device and system
  • Chromosome aneuploidy detection method, device and system

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Embodiment

[0141] The reference sequence used is a collection of regions of the human reference genome that do not contain the regions shown in Table 1 and satisfy the following: 1) the alignment ability is 1, 2) the sequencing depth is less than 6 times of the average sequencing depth, or the sequence has been sequenced The sequencing depth of regions with a depth percentile greater than 99 was assigned the 99th percentile sequencing depth value.

[0142] Both the control sample and the test sample were processed by:

[0143] 1. Sequencing, obtain the off-machine data, that is, obtain the set of reads; remove the reads less than 25bp;

[0144] 2. Obtain the alignment result (sam file), including obtaining unique reads (reads aligned to the unique position of the reference sequence) and the positions of these reads on the reference sequence / reference chromosome;

[0145] 3. Perform GC correction, including: cutting the reference sequence into 150Kbp windows / regions (Bin=150K); calculati...

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Abstract

The invention discloses a chromosome aneuploidy detection method, device and system. The method comprises the following steps of: sequencing at least one part of nucleic acids in a to-be-detected sample so as to obtain a sequencing result with reading segments; comparing the reading segments with a first reference sequence so as to obtain a comparison result, wherein the comparison result comprises information of positioning the reading segments in specific chromosomes; for first chromosomes, determining a number of reading segments positioned in the first chromosomes on the basis of the comparison result; and comparing the number of the reading segments positioned in the first chromosomes with a number of reading segments, positioned in corresponding first chromosomes, in a negative sample, so as to judge a number of the first chromosomes. By utilizing the method to carry out chromosome aneuploidy detection, the obtained detection results have relatively high sensitivity and correctness.

Description

technical field [0001] The invention relates to the field of bioinformatics, in particular to a method, device and system for detecting chromosomal aneuploidy. Background technique [0002] Down syndrome (21-trisomy), Edwards syndrome (13-trisomy), and Patau's syndrome (18-trisomy) are the most common neonatal chromosomal aneuploidy diseases, and their incidence rates 1 / 700 [Papageorgiou, E.A. etal. Fetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21. Nat. Med. 17, 510–513 (2011).], 1 / 6,000 and 1 / 10,000 [Driscoll, D.A. & Gross, S . Prenatal Screening for Aneuploidy. N. Engl. J. Med. 360, 2556–2562 (2009).]. These chromosomal aneuploidies lead to high morbidity and mortality. Amniocentesis and chorionic villus sampling are the standard methods for diagnosing fetal chromosomal abnormalities, but these diagnostic methods themselves have a miscarriage rate as high as 0.6% to 1.9%. In order to avoid these risks, it is necessary to develop a...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): G06F19/18C12Q1/6883C12M1/34
CPCG16B20/00C12Q1/6883
Inventor 曾立董吴增丁金欢徐伟彬李林森赵陆洋张萌颜钦
Owner GENEMIND BIOSCIENCES CO LTD
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