Abstracts tagged "genetic disorders and genomics"

Abstract Number: 2864 • 2013 ACR/ARHP Annual Meeting
Whole Exome Sequencing In Pediatric Patients With Early Onset Rare Immunodysregulatory Diseases That Present With Fever and Systemic Inflammation
Adriana Almeida de Jesus¹, Julie Niemela², Yin Liu³, Steven Boyden⁴, Ivona Aksentijevich⁵, Daniel L. Kastner⁶, Thomas A. Fleisher⁷, Raphaela Goldbach-Mansky³ and Zuoming Deng⁸, ¹Translational Autoinflammatory Disease Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD, ²Laboratory Medicine, NIH Clinical Center, Bethesda, MD, ³Translational Autoinflammatory Diseases Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD, ⁴National Human Genome Research Institute, NIH, Bethesda, MD, ⁵Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ⁶Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD, ⁷Laboratory Medicine, Laboratory Medicine, NIH Clinical Center, Bethesda, MD, ⁸Biodata Mining and Discovery Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD
Background/Purpose: WES (Whole Exome Sequencing) has increasingly become the tool of choice in translational research, providing molecular diagnoses in Mendelian diseases and identifying important genes…

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