Please cite the X-CNV method and the ACMG/ClinGen CNV standard when using the corresponding package lanes:

Zhang L, Shi J, Ouyang J, Zhang R, Tao Y, Yuan D, Lv C, Wang R, Ning B, Roberts R, Tong W, Liu Z, Shi T (2021). “X-CNV: genome-wide prediction of the pathogenicity of copy number variations.” Genome Medicine, 13(1), 132. doi:10.1186/s13073-021-00945-4.

Riggs E, Andersen E, Cherry A, Martin C (2020). “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).” Genetics in Medicine, 22, 245–257. doi:10.1038/s41436-019-0686-8.

Corresponding BibTeX entries:

  @Article{,
    title = {X-CNV: genome-wide prediction of the pathogenicity of copy
      number variations},
    author = {Lu Zhang and Jing Shi and Jing Ouyang and Rui Zhang and
      Yan Tao and Dong Yuan and Cong Lv and Rui Wang and Bing Ning and
      Richard Roberts and William Tong and Zhi Liu and Tao Shi},
    journal = {Genome Medicine},
    year = {2021},
    volume = {13},
    number = {1},
    pages = {132},
    doi = {10.1186/s13073-021-00945-4},
    pmid = {34407882},
  }

  @Article{,
    title = {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)},
    author = {Erin Rooney Riggs and Erica F Andersen and Athena M
      Cherry and Christa Lese Martin},
    journal = {Genetics in Medicine},
    year = {2020},
    volume = {22},
    pages = {245--257},
    doi = {10.1038/s41436-019-0686-8},
    pmid = {31690835},
  }