FRASER

FRASER - Find RAre Splicing Events in RNA-seq

https://github.com/gagneurlab/fraser

Science Score: 57.0%

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  • DOI references
    Found 7 DOI reference(s) in README
  • Academic publication links
  • Committers with academic emails
    12 of 19 committers (63.2%) from academic institutions
  • Institutional organization owner
    Organization gagneurlab has institutional domain (www.gagneurlab.in.tum.de)
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  • Scientific vocabulary similarity
    Low similarity (12.2%) to scientific vocabulary

Keywords

aberrant-splicing diagnostics outlier-detection r rare-disease rna-seq splicing

Keywords from Contributors

nextflow nf-core bioconductor-package bioinformatics genomics
Last synced: 6 months ago · JSON representation

Repository

FRASER - Find RAre Splicing Events in RNA-seq

Basic Info
  • Host: GitHub
  • Owner: gagneurlab
  • License: other
  • Language: R
  • Default Branch: master
  • Homepage:
  • Size: 14.5 MB
Statistics
  • Stars: 47
  • Watchers: 6
  • Forks: 24
  • Open Issues: 29
  • Releases: 15
Topics
aberrant-splicing diagnostics outlier-detection r rare-disease rna-seq splicing
Created over 6 years ago · Last pushed 6 months ago
Metadata Files
Readme Changelog License

README.md

FRASER - Find RAre Splicing Events in RNA-seq

R-CMD-check-bioc Version Coverage status License

FRASER is a tool to detect aberrant splicing events in RNA-seq data. The method is described and published in Nature Communications and available through Bioconductor. It is also part of the Detection of RNA Outlier Pipeline (DROP). DROP is described and published in Nature Protocols.

The FRASER framework and workflow aims to assist the diagnostics in the field of rare diseases where RNA-seq is performed to identify aberrant splicing defects. For a short tutorial on how to use FRASER on a dataset please use the vignette or our Colab tutorial at: http://tinyurl.com/RNA-ASHG-colab. The Colab is based on a workshop that we presented at ASHG 2019/2020.

Please cite our method paper FRASER if you use it in a publication:

Mertes, C., Scheller, I.F., Yépez, V.A. et al. Detection of aberrant splicing events in RNA-seq data using FRASER. Nat Commun 12, 529 (2021). https://doi.org/10.1038/s41467-020-20573-7

or if you use FRASER2:

Scheller, I.F., Lutz, K., Mertes, C et al. Improved detection of aberrant splicing with FRASER 2.0 and the intron Jaccard index. Am Jrnl Hum Genet 110, 12 (2023). https://doi.org/10.1016/j.ajhg.2023.10.014

What's new

In version 2.4.5, we fixed a bug affecting unstranded paired-end data. We were counting read fragments instead of read pairs. The counted split reads with the fixed method are, on average, lower by around 20%. If you have such data, please rerun your entire analysis from the start (make sure you have recount=TRUE).

In version 2.4.3, instead of doing a grid search to determine the optimal encoding dimension of the denoising autoencoder, we now use the Optimal Hard Threshold (OHT). This makes the algorithm 6-10 times faster!

⚠️ Also, since this version, FRASER is released under CC-BY-NC 4.0, meaning it requires a license for any commercial use. If you want to use it for commercial purposes, please contact us.

FRASER 2.0, an improved version of FRASER, is now available and used by default (version 1.99.0 and above). FRASER 2.0 uses the Intron Jaccard Index as its splice metric instead of FRASER's previous three metrics along with some other parameter optimizations of pseudocounts, filtering settings and default delta cutoff.

To change the splice metric, set fitMetrics(fds) to one or more of the metrics specified in FRASER::psiTypes. For FRASER 2.0 and the Intron Jaccard Index, the new default delta cutoff is 0.1 instead of the previous value of 0.3. When using the 3 previous metrics, the delta cutoff should be set manually to 0.3 during results extraction, e.g. results(fds, deltaPsiCutoff=0.3,...).

Installation

FRASER is an R/Bioconductor software package requiring a running R 3.6 version or higher.

The recommended way of installing FRASER is through Bioconductor: if (!requireNamespace("BiocManager", quietly=TRUE)) install.packages('BiocManager') BiocManager::install('FRASER')

If you use an R version below 4.0.0, you have to install it from the source. To this end, we will use devtools to install it. For this, you need a working development environment to compile the C++ code (see for details: Windows or MacOS X).

``` if (!requireNamespace("devtools", quietly=TRUE)) install.packages('devtools')

latest development version

devtools::install_github('gagneurlab/FRASER', dependencies=TRUE)

or a specific version of FRASER (search for tags on github)

devtools::install_github('gagneurlab/FRASER', ref='1.1.3', dependencies=TRUE) ```

If you have dependency issues while installing any package, please have a look at the Troubleshooting section or submit an issue on GitHub.

Troubleshooting

Error in UseMethod("filter_")

When using FRASER with R3.6 one might observe the following error:

``` fds <- annotateRanges(fds)

Error in UseMethod("filter_") :

no applicable method for 'filter' applied to an object of class "c('tblSQLiteConnection', 'tbldbi', 'tblsql', 'tbl_lazy', 'tbl')"

```

To overcome this error one needs to upgrade BiocFileCache.

BiocManager::install("Bioconductor/BiocFileCache", ask=FALSE, update=FALSE)

Missing libraries while compiling R packages

On some Linux distributions, we need the developer libraries for compiling the R packages.

To install those packages, please run as administrator:

For Ubuntu or Debian-based systems: sudo apt-get install build-essential libcurl4-gnutls-dev libxml2-dev libssl-dev zlib1g-dev libmysqld-dev

For centOS or RHEL based systems: sudo yum install R-devel zlib-devel openssl-devel libcurl-devel libxml2-devel mariadb-devel

Owner

  • Name: Gagneur lab
  • Login: gagneurlab
  • Kind: organization

To understand the genetic basis of gene regulation and its implication in diseases.

GitHub Events

Total
  • Create event: 15
  • Release event: 4
  • Issues event: 14
  • Watch event: 8
  • Delete event: 9
  • Issue comment event: 21
  • Push event: 42
  • Pull request review event: 5
  • Pull request event: 11
  • Fork event: 2
Last Year
  • Create event: 15
  • Release event: 4
  • Issues event: 14
  • Watch event: 8
  • Delete event: 9
  • Issue comment event: 21
  • Push event: 42
  • Pull request review event: 5
  • Pull request event: 11
  • Fork event: 2

Committers

Last synced: 9 months ago

All Time
  • Total Commits: 993
  • Total Committers: 19
  • Avg Commits per committer: 52.263
  • Development Distribution Score (DDS): 0.392
Past Year
  • Commits: 3
  • Committers: 1
  • Avg Commits per committer: 3.0
  • Development Distribution Score (DDS): 0.0
Top Committers
Name Email Commits
Christian Mertes m****s@i****e 604
Ines Scheller s****r@i****e 343
Nitesh Turaga n****a@g****m 10
Vicente Yepez 3****8 8
Yingjiqiong Liang l****i@i****e 4
Michaela Müller m****e@i****e 3
AtaJadidAhari a****i@g****m 3
Felix Brechtmann b****a@i****e 2
J Wokaty j****y@s****u 2
Luise Schuller l****r@t****e 2
nickhsmith s****h@g****m 2
Vicente y****z@i****e 2
Ines Scheller i****r@i****e 2
Darío Hereñú m****a@g****m 1
Smith Nicholas s****h@i****e 1
Salazar Daniela Soraya Andrade s****r@i****e 1
Rothammer Sophie Maria r****s@o****e 1
Christian Mertes m****s@b****n 1
Drew Behrens d****h@g****m 1

Issues and Pull Requests

Last synced: 6 months ago

All Time
  • Total issues: 39
  • Total pull requests: 14
  • Average time to close issues: 12 months
  • Average time to close pull requests: 13 days
  • Total issue authors: 24
  • Total pull request authors: 5
  • Average comments per issue: 1.69
  • Average comments per pull request: 0.36
  • Merged pull requests: 8
  • Bot issues: 0
  • Bot pull requests: 0
Past Year
  • Issues: 9
  • Pull requests: 13
  • Average time to close issues: about 2 months
  • Average time to close pull requests: 14 days
  • Issue authors: 8
  • Pull request authors: 5
  • Average comments per issue: 0.78
  • Average comments per pull request: 0.31
  • Merged pull requests: 7
  • Bot issues: 0
  • Bot pull requests: 0
Top Authors
Issue Authors
  • fburdet (5)
  • deb0612 (3)
  • qj009 (2)
  • jialanm (2)
  • Hoeze (2)
  • Wynandi (2)
  • tlz4320 (2)
  • lyj95618 (2)
  • h-joshi (2)
  • dkhalenkw (2)
  • mmartinezj (2)
  • lemdcock (1)
  • Vinniporiya (1)
  • MiqG (1)
  • mincej (1)
Pull Request Authors
  • AtaJadidAhari (7)
  • c-mertes (4)
  • andrearaithel (2)
  • Copilot (1)
  • vyepez88 (1)
Top Labels
Issue Labels
Pull Request Labels
enhancement (2)

Packages

  • Total packages: 1
  • Total downloads:
    • bioconductor 14,141 total
  • Total dependent packages: 0
  • Total dependent repositories: 0
  • Total versions: 8
  • Total maintainers: 1
bioconductor.org: FRASER

Find RAre Splicing Events in RNA-Seq Data

  • Versions: 8
  • Dependent Packages: 0
  • Dependent Repositories: 0
  • Downloads: 14,141 Total
Rankings
Dependent repos count: 0.0%
Dependent packages count: 0.0%
Average: 22.2%
Downloads: 66.7%
Maintainers (1)
Last synced: 6 months ago

Dependencies

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