William A. Gahl3
Gretchen Golas2
David R. Adams2
3William A. Gahl
2Gretchen Golas
2David R. Adams
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PURPOSE Using exome sequence data from 159 families participating in the National Institutes of Health Undiagnosed Diseases Program, we evaluated the number and inheritance mode of reportable incidental sequence variants. METHODS Following the American College of Medical Genetics and Genomics recommendations for reporting of incidental findings from(More)
BACKGROUND Before any invasive procedure, physicians have a legal obligation to inform patients. Traditionally, this involves a discussion with a physician, supplemented by written leaflet information directed at the specific procedure. OBJECTIVE Comparison of the use and effectiveness of computer-based visualization opposed to standardized conversation(More)
PURPOSE Medical diagnosis and molecular or biochemical confirmation typically rely on the knowledge of the clinician. Although this is very difficult in extremely rare diseases, we hypothesized that the recording of patient phenotypes in Human Phenotype Ontology (HPO) terms and computationally ranking putative disease-associated sequence variants improves(More)
The Undiagnosed Diseases Program (UDP) was started in 2008 with the goals of making diagnoses and facilitating related translational research. The individuals and families seen by the UDP are often unique and medically complex. Approximately 40% of UDP cases are pediatric. The Undiagnosed Diseases Program Integrated Collaboration System (UDPICS) was(More)
Personalized medicine, the ability to tailor diagnostic and treatment decisions for individual patients, is seen as the evolution of modern medicine. We characterize here the informatics resources available today or envisioned in the near future that can support clinical interpretation of genomic test results. We assume a clinical sequencing scenario(More)
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