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Intellectual disability is a condition characterized by significant limitations in cognitive abilities and social/behavioral adaptive skills and is an important reason for pediatric, neurologic, and genetic referrals. Approximately 10% of protein-encoding genes on the X chromosome are implicated in intellectual disability, and the corresponding intellectual disability is termed X-linked ID (XLID). Although few mutations and a small number of families have been identified and XLID is rare, collectively the impact [...]

This study was to assess whether active learning strategies can be integrated with supervised word sense disambiguation (WSD) methods, thus reducing the number of annotated samples, while keeping or improving the quality of disambiguation models.

While genome-wide association studies (GWAS) of complex traits have revealed thousands of reproducible genetic associations to date, these loci collectively confer very little of the heritability of their respective diseases and, in general, have contributed little to our understanding the underlying disease biology. Physical protein interactions have been utilized to increase our understanding of human Mendelian disease loci but have yet to be fully exploited for complex traits.

The goal of this work was to evaluate machine learning methods, binary classification and sequence labeling, for medication-attribute linkage detection in two clinical corpora.

To characterize question types that residents received on overnight shifts and what information sources were used to answer them.

Private data analysis-the useful analysis of confidential data-requires a rigorous and practicable definition of privacy. Differential privacy, an emerging standard, is the subject of intensive investigation in several diverse research communities. We review the definition, explain its motivation, and discuss some of the challenges to bringing this concept to practice.

To assess patients' desire for granular level privacy control over which personal health information should be shared, with whom, and for what purpose; and whether these preferences vary based on sensitivity of health information.

To test the feasibility of using text mining to depict meaningfully the experience of pain in patients with metastatic prostate cancer, to identify novel pain phenotypes, and to propose methods for longitudinal visualization of pain status.

The term informatics is currently enveloped in chaos. One way to clarify the meaning of informatics is to identify the competencies associated with training in the field, but this approach can conceal the whole that the competencies atomistically describe. This work takes a different approach by offering three higher-level visions of what characterizes the field, viewing informatics as: (1) cross-training between basic informational sciences and an application domain, (2) the [...]

In order for computers to extract useful information from unstructured text, a concept normalization system is needed to link relevant concepts in a text to sources that contain further information about the concept. Popular concept normalization tools in the biomedical field are dictionary-based. In this study we investigate the usefulness of natural language processing (NLP) as an adjunct to dictionary-based concept normalization.