While only recently developed, the ability to profile expression data in single cells (scRNA-Seq) has already led to several important studies and findings. However, this technology has also raised several new computational challenges. These include ...
MOTIVATION: The NCBI's Sequence Read Archive (SRA) promises great biological insight if one could analyze the data in the aggregate; however, the data remain largely underutilized, in part, due to the poor structure of the metadata associated with ea...
BACKGROUND: The inflammatory bowel diseases (IBDs) are chronic inflammatory disorders, associated with genetic, immunologic, and environmental factors. Although hundreds of genes are implicated in IBD etiology, it is likely that additional genes play...
Journal of the American Medical Informatics Association : JAMIA
May 1, 2017
OBJECTIVE: This paper describes the Precision Medicine Knowledge Base (PMKB; https://pmkb.weill.cornell.edu ), an interactive online application for collaborative editing, maintenance, and sharing of structured clinical-grade cancer mutation interpre...
MOTIVATION: Somatic DNA recombination, the hallmark of vertebrate adaptive immunity, has the potential to generate a vast diversity of antigen receptor sequences. How this diversity captures antigen specificity remains incompletely understood. In thi...
IEEE/ACM transactions on computational biology and bioinformatics
Jan 1, 2017
Owing to the innate noise in the biological data sources, a single source or a single measure do not suffice for an effective disease gene prioritization. So, the integration of multiple data sources or aggregation of multiple measures is the need of...
IEEE/ACM transactions on computational biology and bioinformatics
Jan 1, 2017
Copy number variants (CNVs), including large deletions and duplications, represent an unbalanced change of DNA segments. Abundant in human genomes, CNVs contribute to a large proportion of human genetic diversity, with impact on many human phenotypes...
Methods in molecular biology (Clifton, N.J.)
Jan 1, 2017
Developing a knowledge base that contains all the information necessary for the researcher studying gene regulation in a particular organism can be accomplished in four stages. This begins with defining the data scope. We describe here the necessary ...
Methods in molecular biology (Clifton, N.J.)
Jan 1, 2017
Logical reasoning played an important role in artificial intelligence. Applying logical reasoning on microRNA data brings intelligence into data analysis. Here, we provide basic introduction about logic (especially propositional logic) and automated ...
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