Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG)

ACMG Laboratory Quality Assurance Committee

Research output: Contribution to journalEditorialpeer-review

Original languageEnglish (US)
Article number100316
JournalGenetics in Medicine
Issue number2
StatePublished - Feb 2023


  • Balanced rearrangements
  • Copy number variants
  • Exome sequencing
  • Genome sequencing
  • Structural variants

ASJC Scopus subject areas

  • Genetics(clinical)

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