RCH B-ALL
Last updated: 2020-05-08
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Knit directory: MINTIE-paper-analysis/
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| File | Version | Author | Date | Message |
|---|---|---|---|---|
| Rmd | f504dcb | Marek Cmero | 2020-05-08 | Added variant found stats for RCH B-ALL analysis |
| html | a600688 | Marek Cmero | 2020-05-07 | Build site. |
| Rmd | 0fde0b8 | Marek Cmero | 2020-05-07 | Added RCH B-ALL analysis |
# util
library(data.table)
library(dplyr)
library(here)
library(stringr)
# plotting
library(ggplot2)options(stringsAsFactors = FALSE)source(here("code/leucegene_helper.R"))RCH B-ALL results
Here we analyse the results of MINTIE run on the RCH B-ALL cohort.
rch_ball_results_dir <- here("data/RCH_B-ALL")
rch_ball_results <- list.files(rch_ball_results_dir, full.names = TRUE) %>%
lapply(., read.delim) %>%
rbindlist() %>%
filter(logFC > 5)
# rename IDs to be consistent with doi: 10.1182/bloodadvances.2019001008
rch_ball_results$sample <- rch_ball_results$sample %>%
str_split("^EKL-|^EKL|^PE15R-MLM-") %>%
lapply(., str_c, collapse = "") %>%
unlist() %>%
str_c("B-ALL_", .)
# list of ALL-associated genes
all_genes <- read.delim(here("data/ref/ALL_associated_genes.txt"), header=FALSE)$V1Variant genes called
Supplementary Figure 4 in the MINTIE paper. Shows the overall number of variant genes called by MINTIE in the RCH B-ALL cohort.
results_by_gene <- get_results_by_gene(rch_ball_results)
results_summary <- results_by_gene[, length(unique(gene)), by = "sample"]
results_summary <- results_summary %>% arrange(desc(V1))
results_summary$sample <- factor(results_summary$sample,
levels = results_summary$sample)
print("Variant genes called summary:")[1] "Variant genes called summary:"summary(results_summary$V1) Min. 1st Qu. Median Mean 3rd Qu. Max.
20.00 39.00 50.00 68.07 77.00 507.00 ggplot(results_summary, aes(sample, V1)) +
geom_bar(position=position_dodge(width=0.8), stat="identity") +
theme_bw() + xlab("") + ylab("# variant genes") +
scale_fill_brewer(palette = "Set2") +
theme(legend.position = "bottom",
axis.text.x = element_text(size = 7, angle = 90))
| Version | Author | Date |
|---|---|---|
| a600688 | Marek Cmero | 2020-05-07 |
ALL-associated genes called
Supplementary Figure 5 in the MINTIE paper. Shows recurrently called variants in ALL-associated genes in RCH B-ALL cohort.
all_gene_results <- filter(results_by_gene, gene %in% all_genes) %>%
collate_vartypes()
paste("We found",
all_gene_results$variant_id %>% unique() %>% length(),
"variants across",
all_gene_results$gene %>% unique() %>% length(),
"unique genes") %>%
print()[1] "We found 315 variants across 134 unique genes"# make list of recurrently mutated genes
recurrent_genes <- group_by(all_gene_results, gene) %>%
summarise(var_count = length(unique(variant_id))) %>%
filter(var_count > 4) %>%
arrange(desc(var_count))
# make summary data frame
all_gene_summary <- group_by(all_gene_results, gene, class, sample) %>%
summarise(var_count = length(unique(variant_id))) %>%
filter(gene %in% recurrent_genes$gene)
all_gene_summary$gene <- factor(all_gene_summary$gene,
levels = recurrent_genes$gene)
# define category colours and plot
cols <- c("#87649aff",
"#bdd888ff",
"#e7d992ff",
"#bdbdbd")
names(cols) <- c("Fusion",
"Transcribed structural variant",
"Novel splice variant",
"Unknown")
ggplot(all_gene_summary, aes(gene, var_count, fill = class)) +
geom_bar(sta = "identity") +
theme_bw() +
xlab("") +
ylab("Variants") +
scale_fill_manual(values = cols) +
theme(legend.position = "bottom",
axis.text.x = element_text(angle = 90))
| Version | Author | Date |
|---|---|---|
| a600688 | Marek Cmero | 2020-05-07 |
# print stats of top 3 gene
all_gene_summary %>%
group_by(gene) %>%
summarise(total_vars = sum(var_count)) %>%
pull(gene) %>%
as.character() %>%
head(3) %>%
lapply(., get_gene_stats, all_gene_summary) %>%
unlist() %>%
str_c("\n") %>%
paste0(collapse = "") %>%
cat()We found 25 variants across 10 samples in ETV6
We found 10 variants across 2 samples in IKZF2
We found 9 variants across 8 samples in PAX5
sessionInfo()R version 3.5.1 (2018-07-02)
Platform: x86_64-apple-darwin15.6.0 (64-bit)
Running under: macOS 10.14.6
Matrix products: default
BLAS: /Library/Frameworks/R.framework/Versions/3.5/Resources/lib/libRblas.0.dylib
LAPACK: /Library/Frameworks/R.framework/Versions/3.5/Resources/lib/libRlapack.dylib
locale:
[1] en_AU.UTF-8/en_AU.UTF-8/en_AU.UTF-8/C/en_AU.UTF-8/en_AU.UTF-8
attached base packages:
[1] stats graphics grDevices utils datasets methods base
other attached packages:
[1] ggplot2_3.1.0 stringr_1.4.0 here_0.1 dplyr_0.8.1
[5] data.table_1.12.0
loaded via a namespace (and not attached):
[1] Rcpp_1.0.1 plyr_1.8.4 compiler_3.5.1 pillar_1.3.1
[5] later_1.0.0 git2r_0.26.1 workflowr_1.6.1 tools_3.5.1
[9] digest_0.6.18 evaluate_0.13 tibble_2.1.1 gtable_0.3.0
[13] pkgconfig_2.0.2 rlang_0.4.2 yaml_2.2.0 xfun_0.5
[17] withr_2.1.2 knitr_1.22 fs_1.2.7 rprojroot_1.3-2
[21] grid_3.5.1 tidyselect_0.2.5 glue_1.3.1 R6_2.4.0
[25] rmarkdown_1.12 purrr_0.3.2 magrittr_1.5 whisker_0.3-2
[29] backports_1.1.3 scales_1.0.0 promises_1.1.0 htmltools_0.3.6
[33] assertthat_0.2.1 colorspace_1.4-1 httpuv_1.5.2 labeling_0.3
[37] stringi_1.4.3 lazyeval_0.2.2 munsell_0.5.0 crayon_1.3.4