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# CITATION.cff file created with {cffr} R package
# See also: https://docs.ropensci.org/cffr/
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cff-version: 1.2.0
message: 'To cite package "XCNV" in publications use:'
type: software
license: GPL-2.0-or-later
title: 'XCNV: Copy Number Variant Annotation and Transparent Scoring'
version: 0.0.0.9000
doi: 10.1186/s13073-021-00945-4
identifiers:
- type: url
  value: https://github.com/kbvstmd/XCNV
abstract: Provides bedtools-free copy-number-variant annotation, a portable evaluator
  and bundled runtime-neutral form of the published X-CNV model of Zhang et al. (2021),
  and independently authored, provenance-first scoring under the ACMG and ClinGen
  2019 constitutional copy-number-variant standard. Large scientific annotation resources
  remain outside the package payload.
authors:
- family-names: Toure
  given-names: Sounkou Mahamane
  email: sounkoutoure@gmail.com
preferred-citation:
  type: article
  title: 'X-CNV: genome-wide prediction of the pathogenicity of copy number variations'
  authors:
  - family-names: Zhang
    given-names: Lu
  - family-names: Shi
    given-names: Jing
  - family-names: Ouyang
    given-names: Jing
  - family-names: Zhang
    given-names: Rui
  - family-names: Tao
    given-names: Yan
  - family-names: Yuan
    given-names: Dong
  - family-names: Lv
    given-names: Cong
  - family-names: Wang
    given-names: Rui
  - family-names: Ning
    given-names: Bing
  - family-names: Roberts
    given-names: Richard
  - family-names: Tong
    given-names: William
  - family-names: Liu
    given-names: Zhi
  - family-names: Shi
    given-names: Tao
  journal: Genome Medicine
  year: '2021'
  volume: '13'
  issue: '1'
  doi: 10.1186/s13073-021-00945-4
  start: '132'
repository: https://rgenomicsetl.r-universe.dev
repository-code: https://github.com/RGenomicsETL/XCNV
commit: dcd13ff68a3d09be0ed7622b4195a20116de18fd
url: https://rgenomicsetl.github.io/XCNV/
date-released: '2026-07-23'
contact:
- family-names: Toure
  given-names: Sounkou Mahamane
  email: sounkoutoure@gmail.com
references:
- type: 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)'
  authors:
  - family-names: Riggs
    given-names: Erin Rooney
  - family-names: Andersen
    given-names: Erica F
  - family-names: Cherry
    given-names: Athena M
  - family-names: Martin
    given-names: Christa Lese
  journal: Genetics in Medicine
  year: '2020'
  volume: '22'
  doi: 10.1038/s41436-019-0686-8
  start: '245'
  end: '257'