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Computational analysis of large genetic datasets reveals rare disease etiologies

Using a new computational approach they developed to analyze large genetic datasets from rare disease cohorts, researchers at the Icahn School of Medicine at Mount Sinai and colleagues have discovered previously unknown genetic causes of three rare conditions: primary lymphedema (characterized by tissue swelling), thoracic aortic aneurysm disease, and congenital deafness.
United Kingdom City Of Region Flamande Daniel Greene Ernest Turro Emily Henderson

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