AIMC Topic: Phenotype
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Identifying patients with familial hypercholesterolemia using data mining methods in the Northern Great Plain region of Hungary.
Atherosclerosis
Oct 1, 2018
BACKGROUND AND AIMS: Familial hypercholesterolemia (FH) is one of the most frequent diseases with monogenic inheritance. Previous data indicated that the heterozygous form occurred in 1:250 people. Based on these reports, around 36,000-40,000 people ...
The anatomy of phenotype ontologies: principles, properties and applications.
Briefings in bioinformatics
Sep 28, 2018
The past decade has seen an explosion in the collection of genotype data in domains as diverse as medicine, ecology, livestock and plant breeding. Along with this comes the challenge of dealing with the related phenotype data, which is not only large...
Multivariate Pattern Analysis of Genotype-Phenotype Relationships in Schizophrenia.
Schizophrenia bulletin
Aug 20, 2018
Genetic risk variants for schizophrenia have been linked to many related clinical and biological phenotypes with the hopes of delineating how individual variation across thousands of variants corresponds to the clinical and etiologic heterogeneity wi...
[From symptom to syndrome using modern software support].
Der Internist
Aug 1, 2018
Diagnosing rare diseases can be challenging for clinicians. This article gives an overview on novel approaches, which enable automated phenotype-driven analyses of differential diagnoses for rare diseases as well as genomic variation data of affected...
pBRIT: gene prioritization by correlating functional and phenotypic annotations through integrative data fusion.
Bioinformatics (Oxford, England)
Jul 1, 2018
MOTIVATION: Computational gene prioritization can aid in disease gene identification. Here, we propose pBRIT (prioritization using Bayesian Ridge regression and Information Theoretic model), a novel adaptive and scalable prioritization tool, integrat...
Improving Interpretation of Cardiac Phenotypes and Enhancing Discovery With Expanded Knowledge in the Gene Ontology.
Circulation. Genomic and precision medicine
Feb 1, 2018
BACKGROUND: A systems biology approach to cardiac physiology requires a comprehensive representation of how coordinated processes operate in the heart, as well as the ability to interpret relevant transcriptomic and proteomic experiments. The Gene On...
Know When You Don't Know: A Robust Deep Learning Approach in the Presence of Unknown Phenotypes.
Assay and drug development technologies
Jan 1, 2018
Deep convolutional neural networks show outstanding performance in image-based phenotype classification given that all existing phenotypes are presented during the training of the network. However, in real-world high-content screening (HCS) experimen...
Improved ontology-based similarity calculations using a study-wise annotation model.
Database : the journal of biological databases and curation
Jan 1, 2018
https://phenomics.github.io/.
Machine Learning Enables Live Label-Free Phenotypic Screening in Three Dimensions.
Assay and drug development technologies
Jan 1, 2018
There is a large amount of information in brightfield images that was previously inaccessible by using traditional microscopy techniques. This information can now be exploited by using machine-learning approaches for both image segmentation and the c...
Conceptual Challenges of the Systemic Approach in Understanding Cell Differentiation.
Methods in molecular biology (Clifton, N.J.)
Jan 1, 2018
The cells of a multicellular organism are derived from a single zygote and genetically identical. Yet, they are phenotypically very different. This difference is the result of a process commonly called cell differentiation. How the phenotypic diversi...
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