AIMC Topic: Phenotype

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Disease phenotype synonymous prediction through network representation learning from PubMed database.

Artificial intelligence in medicine
Synonym mapping between phenotype concepts from different terminologies is difficult because terminology databases have been developed largely independently. Existing maps of synonymous phenotype concepts from different terminology databases are high...

Artificial intelligence in clinical and genomic diagnostics.

Genome medicine
Artificial intelligence (AI) is the development of computer systems that are able to perform tasks that normally require human intelligence. Advances in AI software and hardware, especially deep learning algorithms and the graphics processing units (...

Machine Learning to Quantitate Neutrophil NETosis.

Scientific reports
We introduce machine learning (ML) to perform classification and quantitation of images of nuclei from human blood neutrophils. Here we assessed the use of convolutional neural networks (CNNs) using free, open source software to accurately quantitate...

Natural language processing for disease phenotyping in UK primary care records for research: a pilot study in myocardial infarction and death.

Journal of biomedical semantics
BACKGROUND: Free text in electronic health records (EHR) may contain additional phenotypic information beyond structured (coded) information. For major health events - heart attack and death - there is a lack of studies evaluating the extent to which...

Benchmarking Parametric and Machine Learning Models for Genomic Prediction of Complex Traits.

G3 (Bethesda, Md.)
The usefulness of genomic prediction in crop and livestock breeding programs has prompted efforts to develop new and improved genomic prediction algorithms, such as artificial neural networks and gradient tree boosting. However, the performance of th...

Dysmorphology in a Genomic Era.

Clinics in perinatology
Dysmorphology is the practice of defining the morphologic phenotype of syndromic disorders. Genomic sequencing has advanced our understanding of human variation and molecular dysmorphology has evolved in response to the science of relating embryologi...

Ensembles of natural language processing systems for portable phenotyping solutions.

Journal of biomedical informatics
BACKGROUND: Manually curating standardized phenotypic concepts such as Human Phenotype Ontology (HPO) terms from narrative text in electronic health records (EHRs) is time consuming and error prone. Natural language processing (NLP) techniques can fa...

A Deep Learning-Based Approach for High-Throughput Hypocotyl Phenotyping.

Plant physiology
Hypocotyl length determination is a widely used method to phenotype young seedlings. The measurement itself has advanced from using rulers and millimeter papers to assessing digitized images but remains a labor-intensive, monotonous, and time-consumi...

Discrimination of the behavioural dynamics of visually impaired infants via deep learning.

Nature biomedical engineering
Sensory loss is associated with behavioural changes, but how behavioural dynamics change when a sensory modality is impaired remains unclear. Here, by recording under a designed standardized scenario, the behavioural phenotypes of 4,196 infants who e...

A machine learning approach for the identification of population-informative markers from high-throughput genotyping data: application to several pig breeds.

Animal : an international journal of animal bioscience
Single nucleotide polymorphisms (SNPs) able to describe population differences can be used for important applications in livestock, including breed assignment of individual animals, authentication of mono-breed products and parentage verification amo...