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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 "FRASER" in publications use:'
type: software
license: MIT
title: 'FRASER: Find RAre Splicing Events in RNA-Seq Data'
version: 2.1.0
doi: 10.1038/s41467-020-20573-7
identifiers:
- type: doi
  value: 10.32614/CRAN.package.FRASER
abstract: Detection of rare aberrant splicing events in transcriptome profiles. Read
  count ratio expectations are modeled by an autoencoder to control for confounding
  factors in the data. Given these expectations, the ratios are assumed to follow
  a beta-binomial distribution with a junction specific dispersion. Outlier events
  are then identified as read-count ratios that deviate significantly from this distribution.
  FRASER is able to detect alternative splicing, but also intron retention. The package
  aims to support diagnostics in the field of rare diseases where RNA-seq is performed
  to identify aberrant splicing defects.
authors:
- family-names: Mertes
  given-names: Christian
  email: mertes@in.tum.de
  orcid: https://orcid.org/0000-0002-1091-205X
- family-names: Scheller
  given-names: Ines
  email: scheller@in.tum.de
  orcid: https://orcid.org/0000-0003-4533-7857
- family-names: Yepez
  given-names: Vicente
  email: yepez@in.tum.de
  orcid: https://orcid.org/0000-0001-7916-3643
- family-names: Gagneur
  given-names: Julien
  email: gagneur@in.tum.de
  orcid: https://orcid.org/0000-0002-8924-8365
preferred-citation:
  type: article
  title: Detection of aberrant splicing events in RNA-seq data using FRASER
  authors:
  - family-names: Mertes
    given-names: Christian
    email: mertes@in.tum.de
    orcid: https://orcid.org/0000-0002-1091-205X
  - family-names: Scheller
    given-names: Ines F
  - family-names: Y\'epez
    given-names: Vicente A
  - family-names: \cCelik
    given-names: Muhammed H
  - family-names: Liang
    given-names: Yingjiqiong
  - family-names: Kremer
    given-names: Laura S
  - family-names: Gusic
    given-names: Mirjana
  - family-names: Prokisch
    given-names: Holger
  - family-names: Gagneur
    given-names: Julien
    email: gagneur@in.tum.de
    orcid: https://orcid.org/0000-0002-8924-8365
  journal: Nature Communications
  volume: '12'
  issue: '1'
  year: '2021'
  issn: 2041-1723
  doi: 10.1038/s41467-020-20573-7
  start: '529'
repository: https://bioc.r-universe.dev
repository-code: https://github.com/gagneurlab/FRASER
commit: 14fe09e5aa2d9955bb50ccf06968017de2cbf0d6
url: https://github.com/gagneurlab/FRASER
date-released: '2024-04-26'
contact:
- family-names: Mertes
  given-names: Christian
  email: mertes@in.tum.de
  orcid: https://orcid.org/0000-0002-1091-205X