Knowledge-based biomedical data science involves the design and implementation of computer systems that act as if they knew about biomedicine. Such systems depend on formally represented knowledge in computer systems, often in the form of knowledge graphs. Here we survey recent progress in systems that use formally represented knowledge to address ...
Infectious disease research spans scales from the molecular to the global—from specific mechanisms of pathogen drug resistance, virulence, and replication to the movement of people, animals, and pathogens around the world. All of these research areas have been impacted by the recent growth of large-scale data sources and data analytics. Some of the...
Cellular differentiation is a common underlying feature of all multicellular organisms through which naïve cells progressively become fate restricted and develop into mature cells with specialized functions. A comprehensive understanding of the regulatory mechanisms of cell fate choices during development, regeneration, homeostasis, and disease is ...
Immunoinformatics is a discipline that applies methods of computer science to study and model the immune system. A fundamental question addressed by immunoinformatics is how to understand the rules of antigen presentation by MHC molecules to T cells, a process that is central to adaptive immune responses to infections and cancer. In the modern era ...
Published in Annual Review of Biomedical Data Science
Social media data have been increasingly used to study biomedical and health-related phenomena. From cohort-level discussions of a condition to population-level analyses of sentiment, social media have provided scientists with unprecedented amounts of data to study human behavior associated with a variety of health conditions and medical treatments...
Published in Annual Review of Biomedical Data Science
Single-cell RNA sequencing (scRNA-seq) has provided a high-dimensional catalog of millions of cells across species and diseases. These data have spurred the development of hundreds of computational tools to derive novel biological insights. Here, we outline the components of scRNA-seq analytical pipelines and the computational methods that underlie...
Understanding the influence of genetics on human disease is among the primary goals for biology and medicine. To this end, the direct study of natural human genetic variation has provided valuable insights into human physiology and disease as well as into the origins and migrations of humans. In this review, we discuss the foundations of population...
The increasing amounts of healthcare data stored in health registries, in combination with genomic and other types of data, have the potential to enable better decision making and pave the path for personalized medicine. However, reaping the full benefits of big, sensitive data for the benefit of patients requires greater access to data across orga...
Over the last several years, next-generation sequencing and its recent push toward single-cell resolution have transformed the landscape of immunology research by revealing novel complexities about all components of the immune system. With the vast amounts of diverse data currently being generated, and with the methods of analyzing and combining di...
Large-scale CRISPR-Cas pooled screens have shown great promise to investigate functional links between genotype and phenotype at the genome-wide scale. In addition to technological advancement, there is a need to develop computational methods to analyze the large datasets obtained from high-throughput CRISPR screens. Many computational methods have...
