Related papers: Finding New Order in Biological Functions from the…
Diseases involve complex processes and modifications to the cellular machinery. The gene expression profile of the affected cells contains characteristic patterns linked to a disease. Hence, biological knowledge pertaining to a disease can…
Genetic algorithms (GAs) emulate the process of biological evolution, in a computational setting, in order to generate good solutions to difficult search and optimisation problems. GA-based optimisers tend to be extremely robust and…
Genetic mutations can cause disease by disrupting normal gene function. Identifying the disease-causing mutations from millions of genetic variants within an individual patient is a challenging problem. Computational methods which can…
Faceted classifications define dimensions for the types of entities included. In effect, the facets provide an "ontological commitment". We compare a faceted thesaurus, the Art and Architecture Thesaurus (AAT), with ontologies derived from…
We propose a novel score-based approach to learning a directed acyclic graph (DAG) from observational data. We adapt a recently proposed continuous constrained optimization formulation to allow for nonlinear relationships between variables…
Reconstructing the evolutionary past of a family of genes is an important aspect of many genomic studies. To help with this, simple operations on a set of sequences called orthology relations may be employed. In addition to being…
The statistical methods derived and described in this thesis provide new ways to elucidate the structural properties of text and other symbolic sequences. Generically, these methods allow detection of a difference in the frequency of a…
We present an automated method of identifying communities of functionally related genes from the biomedical literature. These communities encapsulate human gene and protein interactions and identify groups of genes that are complementary in…
Despite the large number of patients in Electronic Health Records (EHRs), the subset of usable data for modeling outcomes of specific phenotypes are often imbalanced and of modest size. This can be attributed to the uneven coverage of…
In this paper we introduce the olog, or ontology log, a category-theoretic model for knowledge representation (KR). Grounded in formal mathematics, ologs can be rigorously formulated and cross-compared in ways that other KR models (such as…
Directed Acyclic Graphical (DAG) models efficiently formulate causal relationships in complex systems. Traditional DAGs assume nodes to be scalar variables, characterizing complex systems under a facile and oversimplified form. This paper…
Many proteins remain functionally unannotated. Sequence alignment (SA) uncovers missing annotations by transferring functional knowledge between species' sequence-conserved regions. Because SA is imperfect, network alignment (NA)…
Directed acyclic graphs (DAGs) are commonly used to model causal relationships among random variables. In general, learning the DAG structure is both computationally and statistically challenging. Moreover, without additional information,…
Tree alignment graphs (TAGs) provide an intuitive data structure for storing phylogenetic trees that exhibits the relationships of the individual input trees and can potentially account for nested taxonomic relationships. This paper…
Sequence comparison and alignment has had an enormous impact on our understanding of evolution, biology, and disease. Comparison and alignment of biological networks will likely have a similar impact. Existing network alignments use…
Deep learning methods exhibit promising performance for predictive modeling in healthcare, but two important challenges remain: -Data insufficiency:Often in healthcare predictive modeling, the sample size is insufficient for deep learning…
Research done using model organisms has been fundamental to the biological understanding of human genes, diseases and phenotypes. Model organisms provide tractable systems for experiments to enhance understanding of biological mechanisms…
Biomedical ontologies, which comprehensively define concepts and relations for biomedical entities, are crucial for structuring and formalizing domain-specific information representations. Biomedical code mapping identifies similarity or…
Gene studies are crucial for fields such as protein structure prediction, drug discovery, and cancer genomics, yet they face challenges in fully utilizing the vast and diverse information available. Gene studies require clean, factual…
In this paper we develop a novel mathematical formalism for the modeling of neural information networks endowed with additional structure in the form of assignments of resources, either computational or metabolic or informational. The…