Richard Chen

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Clinical genomic testing is dependent on the robust identification and reporting of variant-level information in relation to disease. With the shift to high-throughput sequencing, a major challenge for clinical diagnostics is the cross-identification of variants called on their genomic position to resources that rely on transcript- or protein-based(More)
Whole exome sequencing is increasingly used for the clinical evaluation of genetic disease, yet the variation of coverage and sensitivity over medically relevant parts of the genome remains poorly understood. Several sequencing-based assays continue to provide coverage that is inadequate for clinical assessment. Using sequence data obtained from the NA12878(More)
The influenza A M2 protein is a 97-residue integral membrane protein involved in viral budding and proton conductance. Although crystal and NMR structures exist of truncated constructs of the protein, there is disagreement between models and only limited structural data are available for the full-length protein. Here, the structure of the C-terminal(More)
Metastatic presence in lymph nodes is one of the most important prognostic variables of breast cancer. The current diagnostic procedure for manually reviewing sentinel lymph nodes, however, is very time-consuming and subjective. Pathologists have to manually scan an entire digital wholeslide image (WSI) for regions of metastasis that are sometimes only(More)
Ad hoc wireless networks are new communication networks that can be dynamically formed and deformed on-the-fly, anytime and anywhere. User data is routed with the help of an ad hoc mobile routing protocol. Before the deployment of ad hoc mobile services, the communication performance of such networks has to be evaluated to demonstrate the practicality(More)
This paper describes the web-based visualization interface of RadMonitor, a platform-independent web application designed to help manage the complexity of information flow within a health care enterprise. The system eavesdrops on Health Layer 7 traffic and parses statistical operational information into a database. The information is then presented to the(More)
Moyamoya disease (MMD) is a rare disorder characterized by cerebrovascular occlusion and development of hemorrhage-prone collateral vessels. Approximately 10-12% of cases are familial, with a presumed low penetrance autosomal dominant pattern of inheritance. Diagnosis commonly occurs only after clinical presentation. The recent identification of the RNF213(More)
Advancement in assistive technology has led to the commercial availability of multi-dexterous robotic prostheses for the upper extremity. The relatively low performance of the currently used techniques to detect the intention of the user to control such advanced robotic prostheses, however, limits their use. This article explores the use of force myography(More)
Somatic mosaicism, the occurrence and propagation of genetic variation in cell lineages after fertilization, is increasingly recognized to play a causal role in a variety of human diseases. We investigated the case of life-threatening arrhythmia in a 10-day-old infant with long QT syndrome (LQTS). Rapid genome sequencing suggested a variant in the sodium(More)