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Down's syndrome dermatoglyph auxiliary screening constructed on basis of machine learning algorithm

A Down syndrome and screening technology, applied in the field of medical diagnosis, can solve problems such as inability to calculate accuracy and inability to reflect

Active Publication Date: 2020-05-29
SHANGHAI INST OF BIOLOGICAL SCI CHINESE ACAD OF SCI
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

The realization of early intervention needs to be based on whether patients can be screened early after birth. Although special facial features, behaviors, mental retardation and other characteristics can provide important clues, they cannot reflect "early", let alone calculate their accuracy

Method used

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  • Down's syndrome dermatoglyph auxiliary screening constructed on basis of machine learning algorithm
  • Down's syndrome dermatoglyph auxiliary screening constructed on basis of machine learning algorithm
  • Down's syndrome dermatoglyph auxiliary screening constructed on basis of machine learning algorithm

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0122] Embodiment 1, dividing training set and independent verification set

[0123] Randomly screen 5% (about 11 cases) of Down syndrome patients and 5% (about 40 cases) of normal control samples to form an independent verification data set (Test set) for machine learning, and the remaining samples (about 1005 cases) are used as model construction The training data set (Trainng set). When randomly sampling the sample, the sex ratio of the sample was taken into account.

Embodiment 2

[0124] Embodiment 2, training set feature variable screening

[0125] The 56 skin texture features of 1005 samples were screened for important feature variables, following the figure 1 Middle (in the dotted box) important feature screening process:

[0126] 1. Use Chi-square test (categorical variable) and mean t test (quantitative variable) to carry out the difference test in the Down syndrome case group (case group) and normal control (control), and there is no significant difference between the case group and the control group feature item;

[0127] 2. Use the XGBoost machine learning method to rank the importance of the feature items with significant differences between the case group and the control group obtained in the first step, and retain the feature items with a cumulative importance of more than 99%;

[0128] 3. Retain the correlation between the feature items in step 2, and remove the items with lower importance ranking among the feature items with higher corr...

Embodiment 3

[0130] Embodiment 3, independent verification set verification

[0131] Using XGBoost to construct the optimal model for the training set that can distinguish between case samples and control samples, apply it to 51 independent verification set test sets, and calculate the average of the optimal combination of feature items for screening Down syndrome samples in the independent verification set Accuracy (Accuracy), True Positive Rate (TPR, True Positive Rate), False Negative Rate (FNR, FalseNegative Rate) and other indicators.

[0132] In addition, support vector machine (SVM, supportvector machine) (Suykens and Vandewalle, 1999) and linear discriminant analysis (LDA, Linear Discriminant Analysis) (Mika et al., 1999) were also used to verify the robustness of the model (Robust). The effectiveness of the combination of characteristic variables in independent samples in screening for Down syndrome was measured.

[0133] result

[0134] 1. The first comprehensive map of the d...

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Abstract

The invention relates to Down's syndrome dermatoglyph auxiliary screening constructed on the basis of a machine learning algorithm. Specifically, the invention provides an early-stage Down's syndromeauxiliary screening system. The system comprises: (a) a dermatoglyph characteristic input module, (b) a dermatoglyph-Down's syndrome distinguishing processing module and (c) an auxiliary screening result output module, wherein the dermatoglyph-Down's syndrome distinguishing processing module is used for performing scoring processing on input dermatoglyph characteristics according to preset judgment standards so as to obtain risk degree scores, and used for comparing the risk degree score with a risk degree threshold of Down's syndromes so as to obtain auxiliary screening results; and the auxiliary screening result output module is used for outputting the auxiliary screening results. By adopting the system, simple, accurate and efficient early-stage auxiliary screening on Down's syndromes can be implemented, and powerful assistance can be provided for early intervention to early-stage Down's syndrome patients after birth.

Description

technical field [0001] The present invention relates to the field of medical diagnosis, and more specifically relates to an auxiliary skin texture screening for Down's syndrome based on a machine learning algorithm. Background technique [0002] Down syndrome is a genetic disorder. The number of patients with Down syndrome is large and the birth rate is high. The overall birth rate in the world is about 1 / 1000 (Weijerman and de Winter, 2011). About 23,000 to 25,000 patients are born in my country every year. [0003] Currently, early prenatal screening for Down syndrome is insufficient. Although there are many prenatal screening methods, especially the new technology of using fetal cell-free DNA sequencing to detect whether there is chromosomal variation, but due to the complexity of the experiment and data analysis, relying on a professional team, the test cost is relatively high, so It is difficult to carry out large-scale promotion in various places, especially rural a...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): A61B5/00G16H50/30G06N20/00
CPCA61B5/0064G16H50/30G16H50/20G16H50/70G16H30/20G16H30/40A61B5/1174A61B5/1172A61B5/7267G06N20/10G06N20/20A61B5/7275A61B2503/04A61B2503/06
Inventor 汪思佳李金喜
Owner SHANGHAI INST OF BIOLOGICAL SCI CHINESE ACAD OF SCI