articleGenetics in MedicineNov 5, 2019BRONZE OA

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

ERErin Rooney RiggsEAErica AndersenAMAthena M. CherrySKSibel KantarciHMHutton M. Kearney

Autism & Developmental Medicine Institute · University of Utah · +9 more institutions

PubMed
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Topics
Keywords
  • Medical genetics
  • Copy-number variation
  • Genomics
  • Consistency (knowledge bases)
  • Population
  • Medicine
  • Genome
  • Data science
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