AIMC Topic: Phenotype

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Machine Learning for High-Throughput Stress Phenotyping in Plants.

Trends in plant science
Advances in automated and high-throughput imaging technologies have resulted in a deluge of high-resolution images and sensor data of plants. However, extracting patterns and features from this large corpus of data requires the use of machine learnin...

Powerful Tests for Multi-Marker Association Analysis Using Ensemble Learning.

PloS one
Multi-marker approaches have received a lot of attention recently in genome wide association studies and can enhance power to detect new associations under certain conditions. Gene-, gene-set- and pathway-based association tests are increasingly bein...

Lynx: a knowledge base and an analytical workbench for integrative medicine.

Nucleic acids research
Lynx (http://lynx.ci.uchicago.edu) is a web-based database and a knowledge extraction engine. It supports annotation and analysis of high-throughput experimental data and generation of weighted hypotheses regarding genes and molecular mechanisms cont...

Causal Phenotype Discovery via Deep Networks.

AMIA ... Annual Symposium proceedings. AMIA Symposium
The rapid growth of digital health databases has attracted many researchers interested in using modern computational methods to discover and model patterns of health and illness in a research program known as computational phenotyping. Much of the wo...

OVA: integrating molecular and physical phenotype data from multiple biomedical domain ontologies with variant filtering for enhanced variant prioritization.

Bioinformatics (Oxford, England)
MOTIVATION: Exome sequencing has become a de facto standard method for Mendelian disease gene discovery in recent years, yet identifying disease-causing mutations among thousands of candidate variants remains a non-trivial task.

A Comparative Study on Multifactor Dimensionality Reduction Methods for Detecting Gene-Gene Interactions with the Survival Phenotype.

BioMed research international
Genome-wide association studies (GWAS) have extensively analyzed single SNP effects on a wide variety of common and complex diseases and found many genetic variants associated with diseases. However, there is still a large portion of the genetic vari...

A systematic comparison of feature space effects on disease classifier performance for phenotype identification of five diseases.

Journal of biomedical informatics
Automated phenotype identification plays a critical role in cohort selection and bioinformatics data mining. Natural Language Processing (NLP)-informed classification techniques can robustly identify phenotypes in unstructured medical notes. In this ...

Multivariate Quantitative Multifactor Dimensionality Reduction for Detecting Gene-Gene Interactions.

Human heredity
OBJECTIVES: To determine gene-gene interactions and missing heritability of complex diseases is a challenging topic in genome-wide association studies. The multifactor dimensionality reduction (MDR) method is one of the most commonly used methods for...

A Robust e-Epidemiology Tool in Phenotyping Heart Failure with Differentiation for Preserved and Reduced Ejection Fraction: the Electronic Medical Records and Genomics (eMERGE) Network.

Journal of cardiovascular translational research
Identifying populations of heart failure (HF) patients is paramount to research efforts aimed at developing strategies to effectively reduce the burden of this disease. The use of electronic medical record (EMR) data for this purpose is challenging g...