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Chromosome Disorders

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Exploitation of Medical Crisp Database for Fuzzy Diagnostic Decision Support Systems.

Studies in health technology and informatics
There are several types of Diagnostic Decision Support Systems (DDSS) but all move towards a common direction: provide assistance to the doctors/clinicians to make the right diagnosis for a specific patient, minimizing as much as possible the needed ...

First Trimester Noninvasive Prenatal Diagnosis: A Computational Intelligence Approach.

IEEE journal of biomedical and health informatics
The objective of this study is to examine the potential value of using machine learning techniques such as artificial neural network (ANN) schemes for the noninvasive estimation, at 11-13 weeks of gestation, the risk for euploidy, trisomy 21 (T21), a...

Varifocal-Net: A Chromosome Classification Approach Using Deep Convolutional Networks.

IEEE transactions on medical imaging
Chromosome classification is critical for karyotyping in abnormality diagnosis. To expedite the diagnosis, we present a novel method named Varifocal-Net for simultaneous classification of chromosome's type and polarity using deep convolutional networ...

Prediction of chromosomal abnormalities in the screening of the first trimester of pregnancy using machine learning methods: a study protocol.

Reproductive health
BACKGROUND: For women in the first trimester, amniocentesis or chorionic villus sampling is recommended for screening. Machine learning has shown increased accuracy over time and finds numerous applications in enhancing decision-making, patient care,...