BACKGROUND: Low plasma proprotein convertase subtilisin kexin type-9 (PCSK9) concentration has been associated with loss of function (LOF) PCSK9 mutations in several studies. However, the current standard for detection of these LOF mutations is throu...
Methods are needed to reliably prioritize biologically active driver mutations over inactive passengers in high-throughput sequencing cancer data sets. We present ParsSNP, an unsupervised functional impact predictor that is guided by parsimony. ParsS...
Computational intelligence and neuroscience
Sep 8, 2016
Artificial immune system is one of the most recently introduced intelligence methods which was inspired by biological immune system. Most immune system inspired algorithms are based on the clonal selection principle, known as clonal selection algorit...
Database : the journal of biological databases and curation
Aug 31, 2016
Genetic skeletal disorders (GSD) involving the skeletal system arises through disturbances in the complex processes of skeletal development, growth and homeostasis and remain a diagnostic challenge because of their clinical heterogeneity and genetic ...
BACKGROUND: The high degree of heterogeneity observed in breast cancers makes it very difficult to classify the cancer patients into distinct clinical subgroups and consequently limits the ability to devise effective therapeutic strategies. Several c...
Journal of computational biology : a journal of computational molecular cell biology
Jun 27, 2016
Genomics has been used with varying degrees of success in the context of drug discovery and in defining mechanisms of action for diseases like cancer and neurodegenerative and rare diseases in the quest for orphan drugs. To improve its utility, accur...
Journal of the American Medical Informatics Association : JAMIA
Apr 27, 2016
OBJECTIVE: Identifying disease-mutation relationships is a significant challenge in the advancement of precision medicine. The aim of this work is to design a tool that automates the extraction of disease-related mutations from biomedical text to adv...
The number of published articles describing associations between mutations and diseases is increasing at a fast pace. There is a pressing need to gather such mutation-disease associations into public knowledge bases, but manual curation slows down th...
Database : the journal of biological databases and curation
Apr 7, 2016
Ion channels are transmembrane proteins that selectively allow ions to flow across the plasma membrane and play key roles in diverse biological processes. A multitude of diseases, called channelopathies, such as epilepsies, muscle paralysis, pain syn...
Journal of the American Medical Informatics Association : JAMIA
Mar 24, 2016
OBJECTIVE: Clinical trials investigating drugs that target specific genetic alterations in tumors are important for promoting personalized cancer therapy. The goal of this project is to create a knowledge base of cancer treatment trials with annotati...