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vyepez88 authored Apr 22, 2022
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Expand Up @@ -3,8 +3,8 @@ Results and Output of DROP

DROP is intended to help researchers use RNA-Seq data in order to detect genes with aberrant expression,
aberrant splicing and mono-allelic expression. By simplifying the workflow process we hope to provide
easy to read and interpret HTML files and output files. This section explains the relevant
results files. The paths of the output files correspond to the ones from the demo (that can be run with the following code snippet)::
easy-to-read HTML files and output files. This section explains the results files. The paths of the output
files correspond to the ones from the demo (that can be run with the following code snippet)::

#install drop
mamba create -n drop_env -c conda-forge -c bioconda drop
Expand All @@ -26,20 +26,20 @@ tab at the top of the screen. The Overview tab contains links to the:

* Counts Summaries for each aberrant expression group
* number of local and external samples
* QC relating to reads and size factors for each sample
* Mapped reads and size factors for each sample
* histograms showing the mean count distribution with different conditions
* expressed genes within each sample and as a dataset
* Outrider Summaries for each aberrant expression group
* aberrantly expressed genes per sample
* correlation between samples before and after the autoencoder
* biological coefficient of variation plot
* biological coefficient of variation
* aberrant samples
* results table
* Files for each aberrant expression group
* OUTRIDER datasets
* Follow the `OUTRIDER vignette <https://www.bioconductor.org/packages/devel/bioc/vignettes/OUTRIDER/inst/doc/OUTRIDER.pdf>`_ for individual OUTRIDER object file (ods) analysis.
* Results tables
* ``results.tsv`` this tsv file contains only the significant genes and samples that meet the cutoffs defined in the config file for ``padjCutoff`` and ``zScoreCutoff``
* ``results.tsv`` this text file contains only the significant genes and samples that meet the cutoffs defined in the config file for ``padjCutoff`` and ``zScoreCutoff``

Local result files
##################
Expand All @@ -60,18 +60,18 @@ tab at the top of the screen. The Overview tab contains links to the:
* histograms showing the junction expression before and after filtering and variability
* FRASER Summaries for each aberrant splicing group
* the number of samples, introns, and splice sites
* how batch correction is done and the resulting lack of batch effects
* result table
* correlation between samples before and after the autoencoder
* results table
* Files for each aberrant splicing group
* FRASER datasets (fds)
* Follow the `FRASER vignette <https://www.bioconductor.org/packages/devel/bioc/vignettes/FRASER/inst/doc/FRASER.pdf>`_ for individual FRASER object file (fds) analysis.
* Results tables
* ``results_per_junction.tsv`` this tsv file contains only significant junctions that meet the cutoffs defined in the config file they are aggregated at the junction level.
* ``results_per_junction.tsv`` this text file contains only significant junctions that meet the cutoffs defined in the config file.

Local result files
##################
Additionally the ``aberrantSplicing`` module creates the following file ``Output/processed_results/aberrant_splicing/results/{annotation}/fraser/{drop_group}/results.tsv``.
This tsv file contains only significant junctions that meet the cutoffs defined in the config file, they are aggregated at the gene level. Any sample/gene pair is represented by only the most significant junction.
This text file contains only significant junctions that meet the cutoffs defined in the config file, aggregated at the gene level. Any sample/gene pair is represented by only the most significant junction.

Mono-allelic Expression
+++++++++++++++++++++++
Expand All @@ -82,17 +82,17 @@ Looking at the resulting ``Output/html/drop_demo_index.html`` we can see the ``M
tab at the top of the screen. The Overview tab contains links to the:

* Results for each mae group
* the number of samples, unique genes, and aberrant events
* number of samples, genes, and mono-allelically expressed heterozygous SNVs
* a cascade plot that shows additional filters
* histogram of inner cohort frequency
* summary of cascade plots and results table
* summary of the cascade plot and results table
* Files for each mae group
* Allelic counts
* a directory containing the allelic counts of heterozygous variants
* Results data tables of each sample (.Rds)
* Rds objects containing the full results table regardless of MAE status
* Significant MAE results tables
* a link to the results tsv file.
* a link to the results file
* Only contains significant MAE for the alternative allele results and results that pass the config file cutoffs
* Quality Control
* QC Overview
Expand All @@ -103,8 +103,8 @@ Local result files
Additionally the ``mae`` module creates the following files:

* ``Output/processed_results/mae/{drop_group}/MAE_results_all_{annotation}.tsv.gz``
* this file is the tsv results of all heterozygous variants regardless of significance
* this file contains the MAE results of all heterozygous SNVs regardless of significance
* ``Output/processed_results/mae/{drop_group}/MAE_results_{annotation}.tsv``
* this is the file linked in the HTML document and described above
* ``Output/processed_results/mae/{drop_group}/MAE_results_{annotation}_rare.tsv``
* this file is the subsetted tsv of ``MAE_results_{annotation}.tsv`` with only the variants that pass the rare cutoffs. If ``add_AF`` is set to true in config file must meet minimum AF set by ``max_AF``. Additionally, the inner-cohort frequency must meet ``maxVarFreqCohort`` cutoff
* this file is a subset of ``MAE_results_{annotation}.tsv`` with only the variants that pass the allele frequency cutoffs. If ``add_AF`` is set to ``true`` in config file must meet minimum AF set by ``max_AF``. Additionally, the inner-cohort frequency must meet the ``maxVarFreqCohort`` cutoff

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