bwbioinfo · GitHub
Last updated:2026-03-11 02:45
Variant Detection Heatmap
This script isolates the variant-detection heatmap panel, matching the time-binned detection view from the full analysis workflow. This code reproduces the base graphic reported in the article Single-workflow Nanopore whole genome sequencing with adaptive sampling for accelerated and comprehensive pediatric cancer profiling.
Data setup
library(dplyr)
library(tidyr)
library(stringr)
library(ggplot2)
set.seed(2026)
heatmap_data <- tidyr::crossing(
sample_name = paste0("sample_", LETTERS[1:6]),
var_region = paste0(
"chr",
sample(c(1:22, "X"), 18, replace = TRUE),
" @ ",
sample(1e5:9e6, 18)
),
time_bin_hours = 0:72,
variant_type = c("SNV", "INDEL", "BND")
) %>%
mutate(
max_reads = rpois(n(), lambda = case_when(
variant_type == "SNV" ~ 40,
variant_type == "INDEL" ~ 22,
TRUE ~ 12
))
) %>%
filter(max_reads > 0) %>%
group_by(sample_name, var_region, variant_type) %>%
mutate(overall_max = max(max_reads)) %>%
ungroup() %>%
mutate(
var_region_clean = str_trunc(var_region, 28),
variant_sample_label = paste0(
sample_name,
": ",
var_region_clean
)
)
Isolated plot
p_heatmap <- heatmap_data %>%
ggplot(
aes(
x = time_bin_hours,
y = reorder(variant_sample_label, overall_max),
fill = max_reads
)
) +
geom_tile(
color = "white",
size = 0.08,
height = 1,
width = 0.95
) +
scale_fill_gradient2(
low = "#2166AC",
mid = "#FFFFBF",
high = "#B2182B",
midpoint = median(heatmap_data$max_reads),
name = "Max\nReads"
) +
scale_x_continuous(
breaks = seq(0, 72, by = 12),
minor_breaks = seq(0, 72, by = 6)
) +
facet_grid(
variant_type ~ .,
scales = "free_y",
space = "free_y"
) +
labs(x = "Time (hours)", y = "Sample: Variant Region") +
theme_minimal() +
theme(
axis.text.x = element_text(
angle = 45,
hjust = 1,
size = 9
),
axis.text.y = element_text(size = 7),
strip.text = element_text(size = 11, face = "bold"),
panel.grid = element_blank()
)
p_heatmap

Session Info
## R version 4.5.2 (2025-10-31)
## Platform: x86_64-pc-linux-gnu
## Running under: Linux Mint 22.2
##
## Matrix products: default
## BLAS: /usr/lib/x86_64-linux-gnu/blas/libblas.so.3.12.0
## LAPACK: /usr/lib/x86_64-linux-gnu/lapack/liblapack.so.3.12.0 LAPACK version 3.12.0
##
## locale:
## [1] LC_CTYPE=en_CA.UTF-8 LC_NUMERIC=C
## [3] LC_TIME=en_CA.UTF-8 LC_COLLATE=en_CA.UTF-8
## [5] LC_MONETARY=en_CA.UTF-8 LC_MESSAGES=en_CA.UTF-8
## [7] LC_PAPER=en_CA.UTF-8 LC_NAME=C
## [9] LC_ADDRESS=C LC_TELEPHONE=C
## [11] LC_MEASUREMENT=en_CA.UTF-8 LC_IDENTIFICATION=C
##
## time zone: America/Toronto
## tzcode source: system (glibc)
##
## attached base packages:
## [1] stats graphics grDevices utils datasets methods base
##
## loaded via a namespace (and not attached):
## [1] digest_0.6.39 R6_2.6.1 bookdown_0.46 fastmap_1.2.0
## [5] xfun_0.56 blogdown_1.23 cachem_1.1.0 knitr_1.51
## [9] htmltools_0.5.9 rmarkdown_2.30 lifecycle_1.0.5 cli_3.6.5
## [13] sass_0.4.10 jquerylib_0.1.4 compiler_4.5.2 tools_4.5.2
## [17] evaluate_1.0.5 bslib_0.10.0 yaml_2.3.12 otel_0.2.0
## [21] jsonlite_2.0.0 rlang_1.1.7