The CellMixS package is a toolbox to explore and compare group effects in single-cell RNA-seq data. It has two major applications:
For this purpose it introduces two new metrics:
It also provides implementations and wrappers for a set of metrics with a similar purpose: entropy, the inverse Simpson index (Korsunsky et al. 2018), and Seurat’s mixing metric and local structure metric (Stuart et al. 2018). Besides this, several exploratory plotting functions enable evaluation of key integration and mixing features.
CellMixS can be installed from Bioconductor as follows.
if (!requireNamespace("BiocManager"))
install.packages("BiocManager")
BiocManager::install("CellMixS")
After installation the package can be loaded into R.
library(CellMixS)
CellMixS uses the SingleCellExperiment
class from the SingleCellExperiment Bioconductor
package as the format for input data.
The package contains example data named sim50, a list of simulated single-cell RNA-seq data with varying batch effect strength and unbalanced batch sizes.
Batch effects were introduced by sampling 0%, 20% or 50% of gene expression values from a distribution with modified mean value (e.g. 0% - 50% of genes were affected by a batch effect).
All datasets consist of 3 batches, one with 250 cells and the others with half of its size (125 cells). The simulation is modified after (Büttner et al. 2019) and described in sim50.
# Load required packages
suppressPackageStartupMessages({
library(SingleCellExperiment)
library(cowplot)
library(limma)
library(magrittr)
library(dplyr)
library(purrr)
library(ggplot2)
library(scater)
})
# Load sim_list example data
sim_list <- readRDS(system.file(file.path("extdata", "sim50.rds"),
package = "CellMixS"))
names(sim_list)
#> [1] "batch0" "batch20" "batch50"
sce50 <- sim_list[["batch50"]]
class(sce50)
#> [1] "SingleCellExperiment"
#> attr(,"package")
#> [1] "SingleCellExperiment"
table(sce50[["batch"]])
#>
#> 1 2 3
#> 250 125 125
Often batch effects can already be detected by visual inspection and simple
visualization (e.g. in a normal tSNE or UMAP plot) depending on the strength. CellMixS contains various plotting functions to
visualize group label and mixing scores aside. Results are ggplot
objects and can be further customized
using ggplot2. Other packages, such as
scater, provide similar plotting functions and could
be used instead.
# Visualize batch distribution in sce50
visGroup(sce50, group = "batch")
# Visualize batch distribution in other elements of sim_list
batch_names <- c("batch0", "batch20")
vis_batch <- lapply(batch_names, function(name){
sce <- sim_list[[name]]
visGroup(sce, "batch") + ggtitle(paste0("sim_", name))
})
plot_grid(plotlist = vis_batch, ncol = 2)
Not all batch effects or group differences are obvious using visualization. Also, in single-cell experiments celltypes and cells can be affected in different ways by experimental conditions causing batch effects (e.g. some cells are more robust to storing conditions than others).
Furthermore the range of methods for data integration and batch effect removal gives rise to the question of which method performs best on which data, and thereby a need to quantify batch effects.
The cellspecific mixing score cms
tests for each cell the hypothesis that
batch-specific distance distributions towards it’s k-nearest neighbouring (knn)
cells are derived from the same unspecified underlying distribution using the
Anderson-Darling test (Scholz and Stephens 1987). Results from the cms
function are two
scores cms and cms_smooth, where the latter is the weighted mean of the cms
within each cell’s neighbourhood. They can be interpreted as the data’s
probability within an equally mixed neighbourhood. A high cms
score refers to
good mixing, while a low score indicates batch-specific bias.
The test considers differences in the number of cells from each batch.
This facilitates the cms
score to differentiate between unbalanced batches
(e.g. one celltype being more abundant in a specific batch) and a biased
distribution of cells. The cms
function takes a SingleCellExperiment
object (described in SingleCellExperiment) as input
and appends results to the colData slot.
# Call cell-specific mixing score for sce50
# Note that cell_min is set to 4 due to the low number of cells and small k.
# Usually default parameters are recommended!!
sce50 <- cms(sce50, k = 30, group = "batch", res_name = "unaligned",
n_dim = 3, cell_min = 4)
head(colData(sce50))
#> DataFrame with 6 rows and 3 columns
#> batch cms_smooth.unaligned cms.unaligned
#> <factor> <numeric> <numeric>
#> cell_1 1 0.00000000 0
#> cell_2 1 0.01969896 0
#> cell_3 1 0.00000000 0
#> cell_4 1 0.00823378 0
#> cell_5 1 0.02896438 0
#> cell_6 1 0.06544070 0
# Call cell-specific mixing score for all datasets
sim_list <- lapply(batch_names, function(name){
sce <- sim_list[[name]]
sce <- cms(sce, k = 30, group = "batch", res_name = "unaligned",
n_dim = 3, cell_min = 4)
}) %>% set_names(batch_names)
# Append cms50
sim_list[["batch50"]] <- sce50
A key question when evaluating dataset structures is how to define neighbourhoods,
or in this case, which cells to use to calculate the mixing.
cms
provides 3 options to define cells included in each Anderson-Darling test:
k
. The optimal choice depends on the application, as with a small k
focus is
on local mixing, while with a large k
mixing with regard to more global
structures is evaluated. In general k
should not exceed the size of the
smallest cell population as including cells from different cell populations can
conflict with the underlying assumptions of distance distributions.k_min
parameter is provided. It denotes the minimum number of cells that define a
neighbourhood. Starting with the knn as defined by k
the cms
function will
cut neighbourhoods by their first local minimum in the
overall distance distribution of the knn cells. Only cells within a distance
smaller than the first local minimum are included in the AD-test, but at least
k_min
cells.batch_min
parameter. It defines the minimum number of cells
for each batch that shall be included into each neighbourhood.
In this case the neighbourhoods will include an increasing number of neighbours
until at least batch_min
cells from each batch are included.For smoothing, either k
or (if specified) k_min
cells are included to get a
weighted mean of cms
-scores. Weights are defined by the reciprocal distance
towards the respective cell, with 1 as weight of the respective cell itself.
Another important parameter is the subspace to use to calculate cell distances.
This can be set using the dim_red
parameter. By default the PCA subspace will be
used and calculated if not present. Some data integration methods provide
embeddings of a common subspace instead of “corrected counts”. cms
scores
can be calculated within these by defining them with the dim_red
argument (see 6.1).
In general all reduced dimension representations can be specified, but only
PCA will be computed automatically, while other methods need to be
precomputed.
An overall summary of cms
scores can be visualized as a histogram. As cms
scores are
p.values from hypothesis testing, without any batch effect the p.value
histogram should be flat. An increased number of very small p-values
indicates the presence of a batch-specific bias within data.
# p-value histogram of cms50
visHist(sce50)
# p-value histogram sim30
# Combine cms results in one matrix
batch_names <- names(sim_list)
cms_mat <- batch_names %>%
map(function(name) sim_list[[name]]$cms.unaligned) %>%
bind_cols() %>% set_colnames(batch_names)
#> New names:
#> • `` -> `...1`
#> • `` -> `...2`
#> • `` -> `...3`
visHist(cms_mat, n_col = 3)
Results of cms
can be visualized in a cell-specific way and alongside any
metadata.
# cms only cms20
sce20 <- sim_list[["batch20"]]
metric_plot <- visMetric(sce20, metric_var = "cms_smooth.unaligned")
# group only cms20
group_plot <- visGroup(sce20, group = "batch")
plot_grid(metric_plot, group_plot, ncol = 2)
# Add random celltype assignments as new metadata
sce20[["celltype"]] <- rep(c("CD4+", "CD8+", "CD3"), length.out = ncol(sce20)) %>%
as.factor
visOverview(sce20, "batch", other_var = "celltype")
Systematic differences (e.g. celltype differences) can be further explored using
visCluster
. Here we do not expect any systematic difference as celltypes were
randomly assigned.
visCluster(sce20, metric_var = "cms.unaligned", cluster_var = "celltype")
#> Picking joint bandwidth of 0.0996
To remove batch effects when integrating different single-cell RNAseq datasets,
a range of methods can be used. The cms
function can be used to evaluate the
effect of these methods, using a cell-specific mixing score. Some of them
(e.g. fastMNN
from the batchelor package) provide a
“common subspace” with integrated embeddings. Other methods like
limma give “batch-corrected data” as results.
Both work as input for cms
.
# MNN - embeddings are stored in the reducedDims slot of sce
reducedDimNames(sce20)
#> [1] "TSNE" "PCA" "MNN"
sce20 <- cms(sce20, k = 30, group = "batch",
dim_red = "MNN", res_name = "MNN", n_dim = 3, cell_min = 4)
# Run limma
sce20 <- scater::logNormCounts(sce20)
limma_corrected <- removeBatchEffect(logcounts(sce20), batch = sce20$batch)
# Add corrected counts to sce
assay(sce20, "lim_corrected") <- limma_corrected
# Run cms
sce20 <- cms(sce20, k = 30, group = "batch",
assay_name = "lim_corrected", res_name = "limma", n_dim = 3,
cell_min = 4)
names(colData(sce20))
#> [1] "batch" "cms_smooth.unaligned" "cms.unaligned"
#> [4] "celltype" "cms_smooth.MNN" "cms.MNN"
#> [7] "sizeFactor" "cms_smooth.limma" "cms.limma"
To compare different methods, summary plots from visIntegration
(see 6.4) and p-value histograms from visHist
can be used. Local
patterns within single methods can be explored as described above.
# As pvalue histograms
visHist(sce20, metric = "cms.", n_col = 3)
Here both methods limma and fastMNN
from the scran package flattened the p.value distribution.
So cells are better mixed after batch effect removal.
Besides successful batch “mixing”, data integration should also preserve the data’s internal structure and variability without adding new sources of variability or removing underlying structures. Especially for methods that result in “corrected counts” it is important to understand how much of the dataset’s internal structures are preserved.
ldfDiff
calculates the differences between each cell’s
local density factor before and after data integration (Latecki, Lazarevic, and Pokrajac 2007).
The local density factor is a relative measure of the cell density around a cell
compared to the densities within its neighbourhood. Local density factors are
calculated on the same set of k cells from the cell’s knn before integration.
In an optimal case relative densities (according to the same set of cells)
should not change by integration and the ldfDiff
score should be close to 0.
In general the overall distribution of ldfDiff
should be centered around 0
without long tails.
# Prepare input
# List with single SingleCellExperiment objects
# (Important: List names need to correspond to batch levels! See ?ldfDiff)
sce_pre_list <- list("1" = sce20[,sce20$batch == "1"],
"2" = sce20[,sce20$batch == "2"],
"3" = sce20[,sce20$batch == "3"])
sce20 <- ldfDiff(sce_pre_list, sce_combined = sce20,
group = "batch", k = 70, dim_red = "PCA",
dim_combined = "MNN", assay_pre = "counts",
n_dim = 3, res_name = "MNN")
#> New names:
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sce20 <- ldfDiff(sce_pre_list, sce_combined = sce20,
group = "batch", k = 70, dim_red = "PCA",
dim_combined = "PCA", assay_pre = "counts",
assay_combined = "lim_corrected",
n_dim = 3, res_name = "limma")
#> New names:
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#> • `` -> `...174`
#> • `` -> `...175`
#> • `` -> `...176`
#> • `` -> `...177`
#> • `` -> `...178`
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#> • `` -> `...180`
#> • `` -> `...181`
#> • `` -> `...182`
#> • `` -> `...183`
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#> • `` -> `...185`
#> • `` -> `...186`
#> • `` -> `...187`
#> • `` -> `...188`
#> • `` -> `...189`
#> • `` -> `...190`
#> • `` -> `...191`
#> • `` -> `...192`
#> • `` -> `...193`
#> • `` -> `...194`
#> • `` -> `...195`
#> • `` -> `...196`
#> • `` -> `...197`
#> • `` -> `...198`
#> • `` -> `...199`
#> • `` -> `...200`
#> • `` -> `...201`
#> • `` -> `...202`
#> • `` -> `...203`
#> • `` -> `...204`
#> • `` -> `...205`
#> • `` -> `...206`
#> • `` -> `...207`
#> • `` -> `...208`
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names(colData(sce20))
#> [1] "batch" "cms_smooth.unaligned" "cms.unaligned"
#> [4] "celltype" "cms_smooth.MNN" "cms.MNN"
#> [7] "sizeFactor" "cms_smooth.limma" "cms.limma"
#> [10] "diff_ldf.MNN" "diff_ldf.limma"
Results from ldfDiff
can be visualized in a similar way as results from cms
.
# ldfDiff score summarized
visIntegration(sce20, metric = "diff_ldf", metric_name = "ldfDiff")
#> Picking joint bandwidth of 0.0867
ldfDiff
shows a clear difference between the two methods.
While limma is able to preserve the batch internal
structure within batches, fastMNN
clearly changes it.
Even if batches are well mixed (see 6.2), fastMNN
does not work
for batch effect removal on these simulated data.
Again this is in line with expectations due to the small number of genes in
the example data. One of MNN’s assumptions is that batch effects should be much
smaller than biological variation, which does not hold true in this small
example dataset.
Often it is useful to check different aspects of data mixing and integration by
the use of different metrics, as many of them emphasize different features of
mixing. To provide an easy interface for thorough investigation of batch effects
and data integration a wrapper function of a variety of metrics is included into
CellMixS. evalIntegration
calls one or all of cms
,
ldfDiff
, entropy
or equivalents to mixingMetric
, localStruct
from the
Seurat package or isi
, a simplfied version of the
local inverse Simpson index as suggested by (Korsunsky et al. 2018). entropy
calculates the Shannon entropy within each cell’s knn describing the
randomness of the batch variable.
isi
calculates the inverse Simpson index within each cell’s knn.
The Simpson index describes the probability that two entities are taken at
random from the dataset and its inverse represents the effective number of
batches in the neighbourhood. A simplified version of the distance based
weightening as proposed by (Korsunsky et al. 2018) is provided by the weight option.
As before the resulting scores are included into the colData slot of the input
SingleCellExperiment
object and can be visualized with visMetric
and other
plotting functions.
sce50 <- evalIntegration(metrics = c("isi", "entropy"), sce50,
group = "batch", k = 30, n_dim = 2, cell_min = 4,
res_name = c("weighted_isi", "entropy"))
visOverview(sce50, "batch",
metric = c("cms_smooth.unaligned", "weighted_isi", "entropy"),
prefix = FALSE)
sessionInfo()
#> R version 4.2.1 (2022-06-23)
#> Platform: x86_64-pc-linux-gnu (64-bit)
#> Running under: Ubuntu 20.04.5 LTS
#>
#> Matrix products: default
#> BLAS: /home/biocbuild/bbs-3.16-bioc/R/lib/libRblas.so
#> LAPACK: /home/biocbuild/bbs-3.16-bioc/R/lib/libRlapack.so
#>
#> 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
#>
#> attached base packages:
#> [1] stats4 stats graphics grDevices utils datasets methods
#> [8] base
#>
#> other attached packages:
#> [1] scater_1.26.0 scuttle_1.8.0
#> [3] ggplot2_3.3.6 purrr_0.3.5
#> [5] dplyr_1.0.10 magrittr_2.0.3
#> [7] limma_3.54.0 cowplot_1.1.1
#> [9] SingleCellExperiment_1.20.0 SummarizedExperiment_1.28.0
#> [11] Biobase_2.58.0 GenomicRanges_1.50.0
#> [13] GenomeInfoDb_1.34.0 IRanges_2.32.0
#> [15] S4Vectors_0.36.0 BiocGenerics_0.44.0
#> [17] MatrixGenerics_1.10.0 matrixStats_0.62.0
#> [19] CellMixS_1.14.0 kSamples_1.2-9
#> [21] SuppDists_1.1-9.7 BiocStyle_2.26.0
#>
#> loaded via a namespace (and not attached):
#> [1] bitops_1.0-7 tools_4.2.1
#> [3] bslib_0.4.0 utf8_1.2.2
#> [5] R6_2.5.1 irlba_2.3.5.1
#> [7] vipor_0.4.5 DBI_1.1.3
#> [9] colorspace_2.0-3 withr_2.5.0
#> [11] tidyselect_1.2.0 gridExtra_2.3
#> [13] compiler_4.2.1 cli_3.4.1
#> [15] BiocNeighbors_1.16.0 DelayedArray_0.24.0
#> [17] labeling_0.4.2 bookdown_0.29
#> [19] sass_0.4.2 scales_1.2.1
#> [21] ggridges_0.5.4 stringr_1.4.1
#> [23] digest_0.6.30 rmarkdown_2.17
#> [25] XVector_0.38.0 pkgconfig_2.0.3
#> [27] htmltools_0.5.3 sparseMatrixStats_1.10.0
#> [29] highr_0.9 fastmap_1.1.0
#> [31] rlang_1.0.6 DelayedMatrixStats_1.20.0
#> [33] jquerylib_0.1.4 generics_0.1.3
#> [35] farver_2.1.1 jsonlite_1.8.3
#> [37] BiocParallel_1.32.0 RCurl_1.98-1.9
#> [39] BiocSingular_1.14.0 GenomeInfoDbData_1.2.9
#> [41] Matrix_1.5-1 Rcpp_1.0.9
#> [43] ggbeeswarm_0.6.0 munsell_0.5.0
#> [45] fansi_1.0.3 viridis_0.6.2
#> [47] lifecycle_1.0.3 stringi_1.7.8
#> [49] yaml_2.3.6 zlibbioc_1.44.0
#> [51] grid_4.2.1 parallel_4.2.1
#> [53] ggrepel_0.9.1 lattice_0.20-45
#> [55] beachmat_2.14.0 magick_2.7.3
#> [57] knitr_1.40 pillar_1.8.1
#> [59] codetools_0.2-18 ScaledMatrix_1.6.0
#> [61] glue_1.6.2 evaluate_0.17
#> [63] BiocManager_1.30.19 vctrs_0.5.0
#> [65] gtable_0.3.1 tidyr_1.2.1
#> [67] assertthat_0.2.1 cachem_1.0.6
#> [69] xfun_0.34 rsvd_1.0.5
#> [71] viridisLite_0.4.1 tibble_3.1.8
#> [73] beeswarm_0.4.0 ellipsis_0.3.2
Büttner, Maren, Zhichao Miao, F. Alexander Wolf, Sarah A. Teichmann, and Fabian J. Theis. 2019. “A test metric for assessing single-cell RNA-seq batch correction.” Nat. Methods 16 (1): 43–49. https://doi.org/10.1038/s41592-018-0254-1.
Korsunsky, Ilya, Jean Fan, Kamil Slowikowski, Fan Zhang, Kevin Wei, Yuriy Baglaenko, Michael Brenner, Po-Ru Loh, and Soumya Raychaudhuri. 2018. “Fast, sensitive, and flexible integration of single cell data with Harmony.” bioRxiv, November, 461954. https://doi.org/10.1101/461954.
Latecki, Longin Jan, Aleksandar Lazarevic, and Dragoljub Pokrajac. 2007. “Outlier Detection with Kernel Density Functions.” In Mach. Learn. Data Min. Pattern Recognit., 61–75. Berlin, Heidelberg: Springer Berlin Heidelberg. https://doi.org/10.1007/978-3-540-73499-4_6.
Scholz, F. W., and M. A. Stephens. 1987. “K-Sample Anderson-Darling Tests.” J. Am. Stat. Assoc. 82 (399): 918. https://doi.org/10.2307/2288805.
Stuart, Tim, Andrew Butler, Paul Hoffman, Christoph Hafemeister, Efthymia Papalexi, William M Mauck, Marlon Stoeckius, Peter Smibert, and Rahul Satija. 2018. “Comprehensive integration of single cell data.” bioRxiv, November, 460147. https://doi.org/10.1101/460147.