AIMC Topic: Phenotype

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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...

Machine Learning Approaches to Improve Three Basic Plant Phenotyping Tasks Using Three-Dimensional Point Clouds.

Plant physiology
Developing automated methods to efficiently process large volumes of point cloud data remains a challenge for three-dimensional (3D) plant phenotyping applications. Here, we describe the development of machine learning methods to tackle three primary...

Machine learning and big data analytics in bipolar disorder: A position paper from the International Society for Bipolar Disorders Big Data Task Force.

Bipolar disorders
OBJECTIVES: The International Society for Bipolar Disorders Big Data Task Force assembled leading researchers in the field of bipolar disorder (BD), machine learning, and big data with extensive experience to evaluate the rationale of machine learnin...

Cell Type Classification and Unsupervised Morphological Phenotyping From Low-Resolution Images Using Deep Learning.

Scientific reports
Convolutional neural networks (ConvNets) have proven to be successful in both the classification and semantic segmentation of cell images. Here we establish a method for cell type classification utilizing images taken with a benchtop microscope direc...

Facetto: Combining Unsupervised and Supervised Learning for Hierarchical Phenotype Analysis in Multi-Channel Image Data.

IEEE transactions on visualization and computer graphics
Facetto is a scalable visual analytics application that is used to discover single-cell phenotypes in high-dimensional multi-channel microscopy images of human tumors and tissues. Such images represent the cutting edge of digital histology and promis...