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# CITATION 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 "ZygosityPredictor" in publications use:'
type: software
license: GPL-2.0-only
title: 'ZygosityPredictor: Package for prediction of zygosity for variants/genes in
  NGS data'
version: 1.5.0
doi: 10.1093/bioadv/vbae017
identifiers:
- type: doi
  value: 10.32614/CRAN.package.ZygosityPredictor
abstract: The ZygosityPredictor allows to predict how many copies of a gene are affected
  by small variants. In addition to the basic calculations of the affected copy number
  of a variant, the Zygosity-Predictor can integrate the influence of several variants
  on a gene and ultimately make a statement if and how many wild-type copies of the
  gene are left. This information proves to be of particular use in the context of
  translational medicine. For example, in cancer genomes, the Zygosity-Predictor can
  address whether unmutated copies of tumor-suppressor genes are present. Beyond this,
  it is possible to make this statement for all genes of an organism. The Zygosity-Predictor
  was primarily developed to handle SNVs and INDELs (later addressed as small-variants)
  of somatic and germline origin. In order not to overlook severe effects outside
  of the small-variant context, it has been extended with the assessment of large
  scale deletions, which cause losses of whole genes or parts of them.
authors:
- family-names: Rheinnecker
  given-names: Marco
  email: marco.rheinnecker@dkfz-heidelberg.de
  orcid: https://orcid.org/0009-0009-7181-3977
- family-names: Ruebsam
  given-names: Marc
- family-names: Huebschmann
  given-names: Daniel
- family-names: Froehlich
  given-names: Martina
- family-names: Hutter
  given-names: Barbara
preferred-citation:
  type: article
  title: ZygosityPredictor
  authors:
  - family-names: Rheinnecker
    given-names: Marco
    email: marco.rheinnecker@dkfz-heidelberg.de
    orcid: https://orcid.org/0009-0009-7181-3977
  - family-names: Rübsam
    given-names: Marc
  - family-names: Fröhlich
    given-names: Martina
  - family-names: Paramasivam
    given-names: Nagarajan
  - family-names: Heilig
    given-names: Christoph E
  - family-names: Fröhling
    given-names: Stefan
  - family-names: Schlenk
    given-names: Richard F
  - family-names: Hutter
    given-names: Barbara
  - family-names: Hübschmann
    given-names: Daniel
  year: '2024'
  journal: Bioinformatics Advances
  doi: 10.1093/bioadv/vbae017
  volume: '4'
  issue: '1'
repository: https://bioc.r-universe.dev
commit: 4445bbb19ad1e86038d8e03292a44e35a24b59b9
date-released: '2023-12-08'
contact:
- family-names: Rheinnecker
  given-names: Marco
  email: marco.rheinnecker@dkfz-heidelberg.de
  orcid: https://orcid.org/0009-0009-7181-3977