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Pedigree

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Ethical and security challenges in AI for forensic genetics: From bias to adversarial attacks.

Forensic science international. Genetics
Forensic scientists play a crucial role in assigning probabilities to evidence based on competing hypotheses, which is fundamental in legal contexts where propositions are presented usually by prosecution and defense. The likelihood ratio (LR) is a w...

Machine learning for genomic and pedigree prediction in sugarcane.

The plant genome
Sugarcane (Saccharum spp.) plays a crucial role in global sugar production; however, the efficiency of breeding programs has been hindered by its heterozygous polyploid genomes. Considering non-additive genetic effects is essential in genome predicti...

Development of a multi-use decision support system for scientific management and breeding of sheep.

Scientific reports
As the challenges of food insecurity and population explosion become more pressing, there is a dire need to revamp the existing breeding and animal management systems. This can be achieved by the introduction of technology for efficiency and the impr...

The application of machine learning to predict genetic relatedness using human mtDNA hypervariable region I sequences.

PloS one
Human identification of unknown samples following disaster and mass casualty events is essential, especially to bring closure to family and friends of the deceased. Unfortunately, victim identification is often challenging for forensic investigators ...

Use of machine learning to classify high-risk variants of uncertain significance in lamin A/C cardiac disease.

Heart rhythm
BACKGROUND: Variation in lamin A/C results in a spectrum of clinical disease, including arrhythmias and cardiomyopathy. Benign variation is rare, and classification of LMNA missense variants via in silico prediction tools results in a high rate of va...

Predicting affinity ties in a surname network.

PloS one
From administrative registers of last names in Santiago, Chile, we create a surname affinity network that encodes socioeconomic data. This network is a multi-relational graph with nodes representing surnames and edges representing the prevalence of i...

A case of apolipoprotein A-I deficiency due to carboxyl-terminal truncation.

Journal of clinical lipidology
Apolipoprotein A-I deficiency is a rare metabolic disease characterized by an impaired reverse cholesterol transport system resulting in excessive cholesterol accumulation. Here, we discuss a case of apolipoprotein A-I deficiency caused by a carboxyl...

Enhancing patient representation learning with inferred family pedigrees improves disease risk prediction.

Journal of the American Medical Informatics Association : JAMIA
BACKGROUND: Machine learning and deep learning are powerful tools for analyzing electronic health records (EHRs) in healthcare research. Although family health history has been recognized as a major predictor for a wide spectrum of diseases, research...

Predicting Diabetic Retinopathy Using a Machine Learning Approach Informed by Whole-Exome Sequencing Studies.

Biomedical and environmental sciences : BES
OBJECTIVE: To establish and validate a novel diabetic retinopathy (DR) risk-prediction model using a whole-exome sequencing (WES)-based machine learning (ML) method.