IsoBayes 1.5.0
IsoBayes is a Bayesian method to perform inference on single protein isoforms. Our approach infers the presence/absence of protein isoforms, and also estimates their abundance; additionally, it provides a measure of the uncertainty of these estimates, via: i) the posterior probability that a protein isoform is present in the sample; ii) a posterior credible interval of its abundance. IsoBayes inputs liquid cromatography mass spectrometry (MS) data, and can work with both PSM counts, and intensities. When available, trascript isoform abundances (i.e., TPMs) are also incorporated: TPMs are used to formulate an informative prior for the respective protein isoform relative abundance. We further identify isoforms where the relative abundance of proteins and transcripts significantly differ. We use a two-layer latent variable approach to model two sources of uncertainty typical of MS data: i) peptides may be erroneously detected (even when absent); ii) many peptides are compatible with multiple protein isoforms. In the first layer, we sample the presence/absence of each peptide based on its estimated probability of being mistakenly detected, also known as PEP (i.e., posterior error probability). In the second layer, for peptides that were estimated as being present, we allocate their abundance across the protein isoforms they map to. These two steps allow us to recover the presence and abundance of each protein isoform.
IsoBayes is available on Bioconductor and can be installed with the command:
if (!requireNamespace("BiocManager", quietly = TRUE)) {
install.packages("BiocManager")
}
BiocManager::install("IsoBayes")
To access the R code used in the vignettes, type:
browseVignettes("IsoBayes")
Questions relative to IsoBayes should be reported as a new issue at BugReports.
To cite IsoBayes, type:
citation("IsoBayes")
## To cite DifferentialRegulation in publications use:
##
## Jordy Bollon, Michael R. Shortreed, Ben T. Jordan, Rachel Miller,
## Erin Jeffery, Andrea Cavalli, Lloyd M. Smith, Colin Dewey, Gloria M.
## Sheynkman, and Simone Tiberi (2024). IsoBayes: a Bayesian approach
## for single-isoform proteomics inference. bioRxiv. URL
## https://doi.org/10.1101/2024.06.10.598223
##
## A BibTeX entry for LaTeX users is
##
## @Article{,
## title = {IsoBayes: a Bayesian approach for single-isoform proteomics inference},
## author = {Jordy Bollon and Michael R. Shortreed and Ben T. Jordan and Rachel Miller and Erin Jeffery and Andrea Cavalli and Lloyd M. Smith and Colin Dewey and Gloria M. Sheynkman and Simone Tiberi},
## eprint = {https://doi.org/10.1101/2024.06.10.598223},
## journal = {bioRxiv},
## year = {2024},
## doi = {10.1101/2024.06.10.598223},
## url = {https://doi.org/10.1101/2024.06.10.598223},
## }
Load IsoBayes:
library(IsoBayes)
IsoBayes works with the output of both MetaMorpheus (MM) (Solntsev et al. 2018), or Percolator (The et al. 2016) (via the OpenMS toolkit (Röst et al. 2016)). Additionally, users can also provide MS data obtained from any bioinformatics tool, as long as the input files follow the structure mentioned in the Input user-provided data Section. In our benchmarks, we tested our model using both MetaMorpheus and Percolator data, and obtained slightly better results, and a shorter runtime with MetaMorpheus.
At the bottom of the vignette, in Section OpenMS and Metamorpheus pipeline we provide example scripts for both OpenMS and Metamorpheus.
In this tutorial, we use a small dataset created by MetaMorpheus. The code to generate the data can be found here.
We can run IsoBayes on either PSM counts or intensities. In our benchmarks, we found that, although results are consistent between the two types of input data, intensities led to a marginal improvement in performance.
If available, transcriptomics data (from short of long reads), can also be integrated in the model in the form of TPMs; this will enhance protein isoform inference.
To correctly match proteomics and transcriptomics data, transcript isoform and protein isoform names must be consistent.
Here, we also specify the path to TPMs (optional).
TPMs must be stored in a data.frame
object (with columns isoname
and tpm
), or in a .tsv
file (with headers isoname
and tpm
); in either case, there should be 1 row per isoform, and 2 columns:
We set the directory of the data (internal in the package):
data_dir = system.file("extdata", package = "IsoBayes")
We set the path (optional) to the TPMs:
tpm_path = paste0(data_dir, "/jurkat_isoform_kallisto.tsv")
Additionally, we suggest to provide the probability that peptides are erroneously detected (usually called PEP): IsoBayes will use the PEP to sample the presence/absence of each peptide; this will propagate the peptide identification uncertainty throughout the inference process.
Alternatively, unreliable peptides can be discarded by specifying a peptide False Discovery Rate (FDR) threshold (also known as qvalue).
We suggest using PEP with a weak FDR threshold of 0.1 (default parameters options).
This is because peptides with FDR > 0.1 are usually unreliable, and associated to high error probabilities (e.g., PEP > 0.9).
In our benchmarks, we found that using PEP
(with and FDR threshold of 0.1) provides a (minor) increase in performace compared to the classical FDR thresholding (0.01 threshold), at the cost of a (marginally) higher runtime.
If we want to disable the PEP integration, and filter based on the FDR, we can set PEP = FALSE
and specify a more stringent FDR cutoff, e.g., as FDR_thd = 0.01
.
SummarizedExperiment
objectBefore running the IsoBayes model, we structure all the required input data into a SummarizedExperiment
object.
Such object can be created in multiple ways;
We set the path to the AllPeptides.psmtsv file returned by MetaMorpheus:
path_to_peptides_psm = paste0(data_dir, "/AllPeptides.psmtsv")
The AllPeptides.psmtsv file contains all the information required to run IsoBayes with PSM counts.
First, we load the file and we convert it into a SummarizedExperiment
object via generate_SE
function. Then, we preprocess the input data using the input_data
function:
SE = generate_SE(path_to_peptides_psm = path_to_peptides_psm,
abundance_type = "psm",
input_type = "metamorpheus")
## We found:
## 10647 protein isoforms.
SE
## class: SummarizedExperiment
## dim: 1 8209
## metadata(5): PEP FDR_thd input_type protein_name id_openMS
## assays(1): Y
## rownames: NULL
## rowData names(0):
## colnames: NULL
## colData names(5): EC QValue DCT sequence PEP
If we want to run the algorithm with peptide intensities, in addition to AllPeptides.psmtsv, we also need to load a second file generated by MM: AllQuantifiedPeptides.tsv.
Then, we have to set abundance_type
argument to “intensities”; otherwise, the generate_SE
function will ignore the AllQuantifiedPeptides.tsv file.
path_to_peptides_intensities = paste0(data_dir, "/AllQuantifiedPeptides.tsv")
SE = generate_SE(path_to_peptides_psm = path_to_peptides_psm,
path_to_peptides_intensities = path_to_peptides_intensities,
abundance_type = "intensities",
input_type = "metamorpheus")
## Peptides with intensity equal to 0:
## 0.568%
## NA's intensity: 30.823%
## We found:
## 10647 protein isoforms.
IsoBayes is also compatible with the PSM file from Percolator (from the OpenMS toolkit).
The README shows how to use OpenMS tools to generate an idXML file containing PSM data.
Once the file has been created, we can pass its path to input_data
and set input_type
as “openMS”.
SE = generate_SE(path_to_peptides_psm = "/path/to/file.idXML",
abundance_type = "psm",
input_type = "openMS")
Please note that when using data generated by Percolator, the algorithm can only process PSM counts and not intensities.
We can also input MS data obtained from any bioinformatics tool.
The data can be organized in a .tsv
file, a data.frame
or a SummarizedExperiment
.
.tsv
or data.frame
formatIn both .tsv
and data.frame
files, each row corresponds to a peptide, and columns refer to:
Note that, when using user-provided data, argument path_to_peptides_intensities
is not considered, because users are free to set column Y
to PSM counts or intensities.
To load user-provided data, we just need to pass the file path, the data.frame
or the SummarizedExperiment
object and set input_type
as “other” .
# X can be a path to a .tsv file or a data.frame
SE = generate_SE(path_to_peptides_psm = X,
abundance_type = "psm",
input_type = "other")
If the data is already stored in a SummarizedExperiment
, it can be passed to input_data
function directly.
The SummarizedExperiment
should contain assays
, colData
and metadata
with the structure specified below.
Object assays
:
Y
; a numeric vector indicating the peptide abundance (PSM counts or intensities).Object colData
, a DataFrame
object with columns:
Object metadata
, a list of objects:
IMPORTANT: input_data
does not filter peptides based on their FDR, since it assumes that unreliable peptides have been already discarded.
Therefore, FDR filtering must be performed by users before the SE
oject is provided to input_data
.
Once we have generated an SE
object, we can process it, together with the TPMs (if available), via input_data
.
For this vignette, we use the SE
object generated above loading the output from MetaMorpheus.
data_loaded = input_data(SE, path_to_tpm = tpm_path)
## After filtering petides, we will analyze:
## 7106 protein isoforms.
## Percentage of unique peptides:
## 46.49%
Once we have loaded the data, we can run the algorithm using the inference
function.
set.seed(169612)
results = inference(data_loaded)
By default, IsoBayes uses one single core.
For large datasets, to speed up the execution time, the number of cores can be increased via the n_cores
argument.
In order to analyse alternative splicing within a specific gene, we may want to normalize the estimated relative abundances for each set of protein isoforms that maps to a gene. To this aim, we need to input a csv file containing two columns denoting the isoform name and the gene name. Alternatively, if isoform-gene ids are already loaded, a data.frame can be used directly. In both cases, the csv file or data.frame must have 2 columns: the 1st column must contain the isoform name/id, while the 2nd column has the gene name/id.
path_to_map_iso_gene = paste0(data_dir, "/map_iso_gene.csv")
set.seed(169612)
results_normalized = inference(data_loaded, map_iso_gene = path_to_map_iso_gene, traceplot = TRUE)
Specifying the map_iso_gene
argument, also enables users to plot results via plot_relative_abundances
function.
Results are stored as a list
with three data.frame
objects: ‘isoform_results’, ‘normalized_isoform_results’ and ‘gene_abundance’. If ‘map_iso_gene’ was not provided, only ‘isoform_results’ is returned.
names(results_normalized)
## [1] "isoform_results" "normalized_isoform_results"
## [3] "gene_abundance" "MCMC"
Inside the ‘isoform_results’ data.frame
, each row corresponds to a protein isoform. The columns report the following results:
input_data
function;head(results_normalized$isoform_results)
## Gene Isoform Prob_present Abundance CI_LB CI_UB Pi Pi_CI_LB
## 1 AAGAB AAGAB-201 0.644 1.262 0 3 1.584713e-05 2.383631e-11
## 2 AAGAB AAGAB-203 0.793 1.738 0 3 2.153024e-05 6.702643e-08
## 3 AAK1 AAK1-201 0.736 1.565 0 3 1.489832e-05 3.930209e-26
## 4 AAK1 AAK1-203 0.355 0.701 0 3 6.720064e-06 3.967865e-28
## 5 AAK1 AAK1-211 0.797 3.443 0 6 3.240565e-05 7.724298e-11
## 6 AAK1 AAK1-212 0.624 2.291 0 6 2.185897e-05 3.862298e-15
## Pi_CI_UB TPM Log2_FC Prob_prot_inc
## 1 4.702063e-05 17.284100 -1.55230266 0.050
## 2 5.471843e-05 26.384500 -1.72040513 0.015
## 3 4.220247e-05 1.625010 1.76955056 0.702
## 4 3.228300e-05 0.632271 1.98278141 0.428
## 5 7.634762e-05 11.637600 0.05037318 0.485
## 6 6.822451e-05 7.264770 0.16215810 0.430
In ‘normalized_isoform_results’ data.frame
, we report the protein isoform relative abundances, normalized within each gene (i.e., adding to 1 within a gene).
head(results_normalized$normalized_isoform_results)
## Gene Isoform Pi_norm Pi_norm_CI_LB Pi_norm_CI_UB Pi_norm_TPM
## 1 AAGAB AAGAB-201 0.42417351 4.935733e-07 0.9559613 0.39580156
## 2 AAGAB AAGAB-203 0.57582649 4.403868e-02 0.9999995 0.60419844
## 3 AAK1 AAK1-201 0.19820016 3.737326e-22 0.5085673 0.07679758
## 4 AAK1 AAK1-203 0.08748612 6.632691e-24 0.4136955 0.02988097
## 5 AAK1 AAK1-211 0.42462808 1.506936e-06 0.8609503 0.54999017
## 6 AAK1 AAK1-212 0.28968564 9.926213e-11 0.8071473 0.34333128
In ‘gene_abundance’ data.frame
, for each gene (row) we return:
head(results_normalized$gene_abundance)
## Gene Abundance CI_LB CI_UB
## 1 AAGAB 3.000 3 3
## 2 AAK1 8.000 8 8
## 3 AAMP 8.991 9 9
## 4 AAR2 8.000 8 8
## 5 AARS1 119.000 119 119
## 6 AARS2 4.000 4 4
Finally, IsoBayes provides the plot_relative_abundances
function to visualize protein-level and transcript-level relative abundances across the isoforms of a specific gene:
plot_relative_abundances(results_normalized, gene_id = "TUBB")
By default plot_relative_abundances
normalizes the relative abundances within genes (again, adding to 1 within a gene).
To disable the normalization, set the
normalize_gene
argument to FALSE
:
plot_relative_abundances(results_normalized, gene_id = "TUBB", normalize_gene = FALSE)
Note that plot_relative_abundances
can be used only when, in the map_iso_gene
argument of the inference
function, we provide a csv file that maps the protein isoforms to the corresponding gene (path_to_map_iso_gene
in this case).
If inference
function was run with parameter traceplot = TRUE
, we can visualize the traceplot of the posterior chains of the relative abundances of each protein isoform (i.e., PI
).
We use the plot_traceplot
function to plot the 3 isoforms of the gene TUBB
:
plot_traceplot(results_normalized, "TUBB-205")
plot_traceplot(results_normalized, "TUBB-206")
plot_traceplot(results_normalized, "TUBB-208")
The vertical grey dashed line indicates the burn-in (the iterations on the left side of the burn-in are discarded in posterior analyses).
Note that, although we are using normalized results, gene-level information is ignored in the traceplot.
sessionInfo()
## R Under development (unstable) (2024-10-21 r87258)
## Platform: x86_64-pc-linux-gnu
## Running under: Ubuntu 24.04.1 LTS
##
## Matrix products: default
## BLAS: /home/biocbuild/bbs-3.21-bioc/R/lib/libRblas.so
## LAPACK: /usr/lib/x86_64-linux-gnu/lapack/liblapack.so.3.12.0
##
## locale:
## [1] LC_CTYPE=en_US.UTF-8 LC_NUMERIC=C
## [3] LC_TIME=en_GB LC_COLLATE=C
## [5] LC_MONETARY=en_US.UTF-8 LC_MESSAGES=en_US.UTF-8
## [7] LC_PAPER=en_US.UTF-8 LC_NAME=C
## [9] LC_ADDRESS=C LC_TELEPHONE=C
## [11] LC_MEASUREMENT=en_US.UTF-8 LC_IDENTIFICATION=C
##
## time zone: America/New_York
## tzcode source: system (glibc)
##
## attached base packages:
## [1] stats graphics grDevices utils datasets methods base
##
## other attached packages:
## [1] IsoBayes_1.5.0 BiocStyle_2.35.0
##
## loaded via a namespace (and not attached):
## [1] SummarizedExperiment_1.37.0 gtable_0.3.6
## [3] xfun_0.48 bslib_0.8.0
## [5] ggplot2_3.5.1 Biobase_2.67.0
## [7] lattice_0.22-6 generics_0.1.3
## [9] vctrs_0.6.5 tools_4.5.0
## [11] stats4_4.5.0 parallel_4.5.0
## [13] tibble_3.2.1 fansi_1.0.6
## [15] highr_0.11 pkgconfig_2.0.3
## [17] Matrix_1.7-1 data.table_1.16.2
## [19] S4Vectors_0.45.0 rngtools_1.5.2
## [21] HDInterval_0.2.4 lifecycle_1.0.4
## [23] GenomeInfoDbData_1.2.13 farver_2.1.2
## [25] compiler_4.5.0 tinytex_0.53
## [27] munsell_0.5.1 codetools_0.2-20
## [29] GenomeInfoDb_1.43.0 htmltools_0.5.8.1
## [31] sass_0.4.9 yaml_2.3.10
## [33] pillar_1.9.0 crayon_1.5.3
## [35] jquerylib_0.1.4 DelayedArray_0.33.0
## [37] cachem_1.1.0 magick_2.8.5
## [39] doRNG_1.8.6 iterators_1.0.14
## [41] abind_1.4-8 foreach_1.5.2
## [43] tidyselect_1.2.1 digest_0.6.37
## [45] dplyr_1.1.4 bookdown_0.41
## [47] labeling_0.4.3 fastmap_1.2.0
## [49] grid_4.5.0 colorspace_2.1-1
## [51] cli_3.6.3 SparseArray_1.7.0
## [53] magrittr_2.0.3 S4Arrays_1.7.0
## [55] utf8_1.2.4 withr_3.0.2
## [57] UCSC.utils_1.3.0 scales_1.3.0
## [59] rmarkdown_2.28 XVector_0.47.0
## [61] httr_1.4.7 matrixStats_1.4.1
## [63] evaluate_1.0.1 knitr_1.48
## [65] GenomicRanges_1.59.0 IRanges_2.41.0
## [67] doParallel_1.0.17 rlang_1.1.4
## [69] Rcpp_1.0.13 glue_1.8.0
## [71] BiocManager_1.30.25 BiocGenerics_0.53.0
## [73] jsonlite_1.8.9 R6_2.5.1
## [75] MatrixGenerics_1.19.0 zlibbioc_1.53.0
IsoBayes works directly with the output of MetaMorpheus, or Percolator (via the OpenMS toolkit). Additionally, users can also provide MS data obtained from any bioinformatics tool, as long as the input files follow the structure mentioned in the Input user-provided data Section IsoBayes works with the output of both MetaMorpheus (MM) (Solntsev et al. 2018), or Percolator (The et al. 2016) (via the OpenMS toolkit (Röst et al. 2016)). Additionally, users can also provide MS data obtained from any bioinformatics tool, as long as the input files follow the structure mentioned in the Input user-provided data Section.
Below, we provide example scripts for both OpenMS and Metamorpheus.
To generate the MM output files required to run IsoBayes, we need to execute the following commands:
conda install -c conda-forge metamorpheus
metamorpheus -t Task1-SearchTaskconfig.toml Task2-CalibrateTaskconfig.toml Task3-SearchTaskconfig.toml Task4-GPTMDTaskconfig.toml Task5-SearchTaskconfig.toml -s 04-30-13_CAST_Frac4_6uL.raw 04-30-13_CAST_Frac5_4uL.raw -d uniprot-mouse-reviewed-1-24-2018.xml.gz uniprot-cRAP-1-24-2018.xml.gz
or
metamorpheus -t Task1-SearchTaskconfig.toml Task2-CalibrateTaskconfig.toml Task3-SearchTaskconfig.toml Task4-GPTMDTaskconfig.toml Task5-SearchTaskconfig.toml -s mzML/04-30-13_CAST_Frac4_6uL.mzML mzML/04-30-13_CAST_Frac5_4uL.mzML -d uniprot-mouse-reviewed-1-24-2018.xml.gz uniprot-cRAP-1-24-2018.xml.gz
There are several ways to install and run MM. For more details see the MM tutorial, where you can also find the example files used here.
We provide a brief pipeline where several OpenMS applications are chained together to generate an idXML file required to run IsoBayes with Percolator output. The pipeline starts from peptide identification results stored in mzID files.
First, install OpenMS toolkit and Percolator tool. For instructions on how to install them on your operating system see OpenMS Installation and Percolator Installation.
Next, declare some useful global variable:
path_to_data=/path/to/mzIDfiles
path_out=/path/to/output
NTHREADS=4
ENZYME_indexer="Chymotrypsin"
ENZYME_percolator="chymotrypsin"
DECOY_STRING="mz|DECOY_"
fdr=1
Below, we show an example with chymotrypsin enzyme.
If the data was generated with another enzyme, please search for the corresponding enzyme in the documentation below, and reset the global variables ENZYME_indexer
and ENZYME_percolator
with the correct enzyme.
PeptideIndexer --help
PercolatorAdapter --help
This pipeline also assumes that in the /path/to/mzIDfiles
folder there is a fasta file listing target and decoy protein isoforms.
The DECOY_STRING
allows you to change the string needed to identify a decoy in the fasta file.
cd $path_out
# convert mzID files into idXML files
for mz in $path_to_data/*.mzID
do
IDFileConverter -in $mz -threads $NTHREADS -out $mz.idXML
done
# merge the files
IDMerger -in $path_to_data/*.idXML -threads $NTHREADS -merge_proteins_add_PSMs -out $path_out/merge.idXML
rm $path_to_data/*.idXML
# index the peptide file with the fasta file
PeptideIndexer -in $path_out/merge.idXML -enzyme:name $ENZYME_indexer -threads $NTHREADS -decoy_string_position prefix -decoy_string $DECOY_STRING -fasta $path_to_data/genecodeAndDecoy.fasta -out $path_out/merge_index.idXML
rm $path_out/merge.idXML
# run percolator
PercolatorAdapter -in $path_out/merge_index.idXML -enzyme $ENZYME_percolator -threads $NTHREADS -generic_feature_set -score_type pep -out $path_out/merge_index_percolator_pep.idXML
rm $path_out/merge_index.idXML
# Estimate the false discovery rate on peptide level using decoy searches and keep the ones with FDR < $fdr
FalseDiscoveryRate -in $path_out/merge_index_percolator_pep.idXML -out $path_out/merge_index_percolator_pep_$fdr.idXML -protein false -threads $NTHREADS -FDR:PSM $fdr -algorithm:add_decoy_peptides -algorithm:add_decoy_proteins
rm $path_out/merge_index_percolator_pep.idXML
# Associate each peptite with Posterior Error Probability score
IDScoreSwitcher -in $path_out/merge_index_percolator_pep_$fdr.idXML -out $path_out/merge_index_percolator_pep_switched_$fdr.idXML -new_score 'Posterior Error Probability_score' -new_score_orientation lower_better -new_score_type pep -threads $NTHREADS
rm $path_out/merge_index_percolator_pep_$fdr.idXML
For more details on OpenMS tools see its Documentation.