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mvvugt committed Jul 12, 2022
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1 change: 1 addition & 0 deletions .gitignore
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Expand Up @@ -11,6 +11,7 @@ core*
*swp
*swo
_archive_/*
.*

# R files
.Rproj.user
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2 changes: 1 addition & 1 deletion README.md
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Expand Up @@ -5,7 +5,7 @@
[![DOI](https://zenodo.org/badge/386120447.svg)](https://zenodo.org/badge/latestdoi/386120447)


> This README and repository accompany the paper _"Penetrance and disease expression of (likely) pathogenic variants associated with inherited cardiomyopathies in the general population"_ by [Bourfiss M. *et al*. **medRxiv 2022**](https://doi.org/10.1101/2022.01.06.22268837).
> This README and repository accompany the paper _"Prevalence and disease expression of pathogenic and likely pathogenic variants associated with inherited cardiomyopathies in the general population"_ by [Bourfiss M. *et al*. **medRxiv 2022**](https://doi.org/10.1101/2022.01.06.22268837).
--------------

# Content
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121 changes: 63 additions & 58 deletions src/Create_Figure5.R
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Expand Up @@ -37,9 +37,9 @@ theme_set(my_theme())
# #2 -- Path to and name of the output file,
# for example /hpc/dhl_ec/mvanvugt/UKBB/results/figures/Figure5.pdf

args = commandArgs(trailingOnly = TRUE)
input = args[1]
output = args[2]
args = commandArgs(trailingOnly = TRUE)
input = args[1]
output = args[2]


## Loading files ---------------------------------------------------------------
Expand All @@ -56,7 +56,7 @@ ex <- c("LV", "RV")
cmr <- df %>% select(starts_with("RV"), starts_with("LV"), contains("Wall_thickness"),
contains("Ecc", ignore.case = FALSE),
contains("Ell", ignore.case = FALSE)) %>%
select(-any_of(ex)) %>% names()
select(-any_of(ex)) %>% names()
# Create df with only P- participants
new <- df %>% select(f.eid, BSA, CM, Pheno, Sex, any_of(cmr)) %>%
filter(Pheno == "Non-Diagnosed") %>%
Expand All @@ -68,19 +68,20 @@ new <- df %>% select(f.eid, BSA, CM, Pheno, Sex, any_of(cmr)) %>%
# LVEF boxplot
p1 <- ggplot(new,
aes(x = factor(CM, levels = c("Controls", "ACM", "DCM", "HCM"),
labels = c("Controls G-P-", "ARVC G+P-", "DCM G+P-",
"HCM G+P-")),
labels = c("Controls G-P-", "ARVC G+P-",
"DCM G+P-", "HCM G+P-")),
y = LVEF, fill = CM)) +
geom_boxplot(outlier.shape = 18, outlier.size = .4, alpha = 0.9,
lwd = .2, fatten = .8) +
labs(x = "Cardiomyopathy", y = "LVEF (%)") +
# annotate("segment", x = c(1, 1, 3), xend = c(3, 1, 3),
# y = c(90, 88, 88), yend = c(90, 90, 90), lwd = .2) +
# annotate("text", x = 2, y = 92, label = "p=0.009", size = 1) +
scale_fill_manual(breaks = c("Controls", "ACM", "DCM", "HCM"),
values = c("#4cbd97", "#ffd167", "#168ab2", "#ef476f")) +
theme(legend.position="none", text = element_text(size = 3),
line = element_line(size = .2))
geom_boxplot(outlier.shape = 18, outlier.size = .4, alpha = 0.9,
lwd = .2, fatten = .8) +
labs(x = "Cardiomyopathy", y = "LVEF (%)") +
# annotate("segment", x = c(1, 1, 3), xend = c(3, 1, 3),
# y = c(90, 88, 88), yend = c(90, 90, 90), lwd = .2) +
# annotate("text", x = 2, y = 92, label = "p=0.009", size = 1) +
scale_fill_manual(breaks = c("Controls", "ACM", "DCM", "HCM"),
values = c("#4cbd97", "#ffd167", "#168ab2",
"#ef476f")) +
theme(legend.position="none", text = element_text(size = 3),
line = element_line(size = .2))

# RVEF boxplot
p1.1 <- ggplot(new,
Expand All @@ -102,64 +103,68 @@ theme(legend.position="none", text = element_text(size = 3),
# LVEDVi boxplot
p2 <- ggplot(new,
aes(x = factor(CM, levels = c("Controls", "ACM", "DCM", "HCM"),
labels = c("Controls G-P-", "ARVC G+P-", "DCM G+P-",
"HCM G+P-")),
labels = c("Controls G-P-", "ARVC G+P-",
"DCM G+P-", "HCM G+P-")),
y = LVEDVi, fill = CM)) +
geom_boxplot(outlier.shape = 18, outlier.size = .4, alpha = 0.9,
lwd = .2, fatten = .8) +
labs(x = "Cardiomyopathy", y = "LVEDVi (ml/m2)") +
scale_fill_manual(breaks = c("Controls", "ACM", "DCM", "HCM"),
values = c("#4cbd97", "#ffd167", "#168ab2", "#ef476f")) +
theme(legend.position="none", text = element_text(size = 3),
line = element_line(size = .2))
geom_boxplot(outlier.shape = 18, outlier.size = .4, alpha = 0.9,
lwd = .2, fatten = .8) +
labs(x = "Cardiomyopathy", y = "LVEDVi (ml/m2)") +
scale_fill_manual(breaks = c("Controls", "ACM", "DCM", "HCM"),
values = c("#4cbd97", "#ffd167", "#168ab2",
"#ef476f")) +
theme(legend.position="none", text = element_text(size = 3),
line = element_line(size = .2))

# RVEDVi boxplot
p2.1 <- ggplot(new,
aes(x = factor(CM, levels = c("Controls", "ACM", "DCM", "HCM"),
labels = c("Controls G-P-", "ARVC G+P-", "DCM G+P-",
"HCM G+P-")),
labels = c("Controls G-P-", "ARVC G+P-",
"DCM G+P-", "HCM G+P-")),
y = RVEDVi, fill = CM)) +
geom_boxplot(outlier.shape = 18, outlier.size = .4, alpha = 0.9,
lwd = .2, fatten = .8) +
labs(x = "Cardiomyopathy", y = "RVEDVi (ml/m2)") +
# annotate("segment", x = c(1, 1, 3), xend = c(3, 1, 3),
# y = c(166, 160, 160), yend = c(166, 166, 166), lwd = .2) +
# annotate("text", x = 2, y = 170, label = "p=0.048", size = 1) +
scale_fill_manual(breaks = c("Controls", "ACM", "DCM", "HCM"),
values = c("#4cbd97", "#ffd167", "#168ab2", "#ef476f")) +
theme(legend.position="none", text = element_text(size = 3),
line = element_line(size = .2))
geom_boxplot(outlier.shape = 18, outlier.size = .4, alpha = 0.9,
lwd = .2, fatten = .8) +
labs(x = "Cardiomyopathy", y = "RVEDVi (ml/m2)") +
# annotate("segment", x = c(1, 1, 3), xend = c(3, 1, 3),
# y = c(166, 160, 160), yend = c(166, 166, 166), lwd = .2) +
# annotate("text", x = 2, y = 170, label = "p=0.048", size = 1) +
scale_fill_manual(breaks = c("Controls", "ACM", "DCM", "HCM"),
values = c("#4cbd97", "#ffd167", "#168ab2",
"#ef476f")) +
theme(legend.position="none", text = element_text(size = 3),
line = element_line(size = .2))

# Max Wall thickness boxplot
p3 <- ggplot(new,
aes(x = factor(CM, levels = c("Controls", "ACM", "DCM", "HCM"),
labels = c("Controls G-P-", "ARVC G+P-", "DCM G+P-",
"HCM G+P-")),
labels = c("Controls G-P-", "ARVC G+P-",
"DCM G+P-", "HCM G+P-")),
y = Maximum_wall_thickness, fill = CM)) +
geom_boxplot(outlier.shape = 18, outlier.size = .4, alpha = 0.9,
lwd = .2, fatten = .8) +
labs(x = "Cardiomyopathy", y = "Maximum wall thickness (mm)") +
scale_fill_manual(breaks = c("Controls", "ACM", "DCM", "HCM"),
values = c("#4cbd97", "#ffd167", "#168ab2", "#ef476f")) +
theme(legend.position="none", text = element_text(size = 3),
line = element_line(size = .2))
geom_boxplot(outlier.shape = 18, outlier.size = .4, alpha = 0.9,
lwd = .2, fatten = .8) +
labs(x = "Cardiomyopathy", y = "Maximum wall thickness (mm)") +
scale_fill_manual(breaks = c("Controls", "ACM", "DCM", "HCM"),
values = c("#4cbd97", "#ffd167", "#168ab2",
"#ef476f")) +
theme(legend.position="none", text = element_text(size = 3),
line = element_line(size = .2))

# Peak longitudinal strain boxplot
p4 <- ggplot(new,
aes(x = factor(CM, levels = c("Controls", "ACM", "DCM", "HCM"),
labels = c("Controls G-P-", "ARVC G+P-", "DCM G+P-",
"HCM G+P-")),
labels = c("Controls G-P-", "ARVC G+P-",
"DCM G+P-", "HCM G+P-")),
y = peakEll4Ch, fill = CM)) +
geom_boxplot(outlier.shape = 18, outlier.size = .4, alpha = 0.9,
lwd = .2, fatten = .8) +
labs(x = "Cardiomyopathy", y = "Peak longitudinal strain (%)") +
# annotate("segment", x = c(1, 1, 3), xend = c(3, 1, 3),
# y = c(-5, -7, -7), yend = c(-5, -5, -5), lwd = .2) +
# annotate("text", x = 2, y = -4, label = "p=0.009", size = 1) +
scale_fill_manual(breaks = c("Controls", "ACM", "DCM", "HCM"),
values = c("#4cbd97", "#ffd167", "#168ab2", "#ef476f")) +
theme(legend.position="none", text = element_text(size = 3),
line = element_line(size = .2))
geom_boxplot(outlier.shape = 18, outlier.size = .4, alpha = 0.9,
lwd = .2, fatten = .8) +
labs(x = "Cardiomyopathy", y = "Peak longitudinal strain (%)") +
# annotate("segment", x = c(1, 1, 3), xend = c(3, 1, 3),
# y = c(-5, -7, -7), yend = c(-5, -5, -5), lwd = .2) +
# annotate("text", x = 2, y = -4, label = "p=0.009", size = 1) +
scale_fill_manual(breaks = c("Controls", "ACM", "DCM", "HCM"),
values = c("#4cbd97", "#ffd167", "#168ab2",
"#ef476f")) +
theme(legend.position="none", text = element_text(size = 3),
line = element_line(size = .2))


## Combine and save figure -----------------------------------------------------
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