gtc2vcf_plot.R

#!/usr/bin/env Rscript
###
#  The MIT License
#
#  Copyright (C) 2019-2024 Giulio Genovese
#
#  Author: Giulio Genovese <giulio.genovese@gmail.com>
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options(error = function() {traceback(3); q()})

gtc2vcf_plot_version <- '2024-09-27'

suppressPackageStartupMessages(library(optparse))
suppressPackageStartupMessages(library(data.table))
suppressPackageStartupMessages(library(ggplot2))
suppressPackageStartupMessages(library(grid))
suppressPackageStartupMessages(library(gridExtra))
if (capabilities()[['cairo']]) options(bitmapType = 'cairo')

parser <- OptionParser('usage: gtc2vcf_plot.R [options] --illumina|--affymetrix --vcf <file.vcf> --chrom <string> --pos <integer> --pdf|--png <file>')
parser <- add_option(parser, c('--vcf'), type = 'character', help = 'input VCF file', metavar = '<file.vcf>')
parser <- add_option(parser, c('--illumina'), action = 'store_true', default = FALSE, help = 'whether the input VCF file contains Illumina data')
parser <- add_option(parser, c('--affymetrix'), action = 'store_true', default = FALSE, help = 'whether the input VCF file contains Affymetrix data')
parser <- add_option(parser, c('--birdseed'), action = 'store_true', default = FALSE, help = 'whether the input VCF file contains Affymetrix data from Birdseed')
parser <- add_option(parser, c('--pdf'), type = 'character', help = 'output PDF file', metavar = '<file.pdf>')
parser <- add_option(parser, c('--png'), type = 'character', help = 'output PNG file', metavar = '<file.png>')
parser <- add_option(parser, c('--width'), type = 'double', default = 7.0, help = 'inches width of the output file [7.0]', metavar = '<float>')
parser <- add_option(parser, c('--height'), type = 'double', default = 7.0, help = 'inches height of the output file [7.0]', metavar = '<float>')
parser <- add_option(parser, c('--fontsize'), type = 'integer', default = 12, help = 'font size [12]', metavar = '<integer>')
parser <- add_option(parser, c('--chrom'), type = 'character', help = 'chromosome', metavar = '<string>')
parser <- add_option(parser, c('--pos'), type = 'integer', help = 'chromosome position', metavar = '<integer>')
parser <- add_option(parser, c('--id'), type = 'character', help = 'variant ID', metavar = '<string>')
parser <- add_option(parser, c('--samples'), type = 'character', help = 'comma-separated list of samples to include', metavar = '<list>')
parser <- add_option(parser, c('--samples-file'), type = 'character', help = 'file with list of samples to include', metavar = '<file>')
parser <- add_option(parser, c('--minimal'), action = 'store_true', default = FALSE, help = 'only plot NORMX/NORMY and BAF/LRR plots')
parser <- add_option(parser, c('--zcall'), action = 'store_true', default = FALSE, help = 'plot ZCall thresholds')
args <- parse_args(parser, commandArgs(trailingOnly = TRUE), convert_hyphens_to_underscores = TRUE)

write(paste('gtc2vcf_plot.R', gtc2vcf_plot_version, 'http://github.com/freeseek/gtc2vcf'), stderr())

# make sure VCF is passed
if (is.null(args$vcf)) {print_help(parser); stop('option --vcf is required')}
if (is.null(args$chrom)) {print_help(parser); stop('option --chrom is required')}
if (is.null(args$pos)) {print_help(parser); stop('option --pos is required')}
if (args$illumina && args$affymetrix) {print_help(parser); stop('cannot use --illumina and --affymetrix at the same time')}
if (args$illumina && args$birdseed) {print_help(parser); stop('cannot use --illumina and --birdseed at the same time')}
if (args$affymetrix && args$zcall) {print_help(parser); stop('cannot use --affymetrix and --zcall at the same time')}
if (is.null(args$pdf) && is.null(args$png)) {print_help(parser); stop('either --pdf or --png is required')}
if (!is.null(args$pdf) && !is.null(args$png)) {print_help(parser); stop('cannot use --pdf and --png at the same time')}
if (!is.null(args$png) && !capabilities('png')) {print_help(parser); stop('unable to start device PNG: no png support in this version of R\nyou need to reinstall R with support for PNG to use the --png option\n')}
if (!is.null(args$samples) && !is.null(args$samples_file)) {print_help(parser); stop('cannot use --samples and --samples-file at the same time')}

base <- c('CHROM', 'POS', 'ID')
if (args$illumina) {
  info <- c('meanR_AA', 'meanR_AB', 'meanR_BB', 'meanTHETA_AA', 'meanTHETA_AB', 'meanTHETA_BB', 'devR_AA', 'devR_AB', 'devR_BB', 'devTHETA_AA', 'devTHETA_AB', 'devTHETA_BB')
  format <- c('GT', 'X', 'Y', 'NORMX', 'NORMY', 'R', 'THETA', 'BAF', 'LRR')
  if (args$zcall) {
    info <- c(info, c('zthresh_X', 'zthresh_Y'))
  }
} else if (args$affymetrix) {
  info <- c('meanX_AA', 'meanX_AB', 'meanX_BB', 'meanY_AA', 'meanY_AB', 'meanY_BB', 'varX_AA', 'varX_AB', 'varX_BB', 'varY_AA', 'varY_AB', 'varY_BB', 'covarXY_AA', 'covarXY_AB', 'covarXY_BB')
  info <- c(info, paste0(info, '.1'))
  format <- c('GT', 'NORMX', 'NORMY', 'DELTA', 'SIZE', 'BAF', 'LRR')
} else {
  info <- c()
  format <- c('GT', 'BAF', 'LRR')
}

fmt <- paste0('"[%', paste(base, collapse = '\\t%'), paste(c('', info), collapse = '\\t%INFO/'), paste(c('', format), collapse = '\\t%'), '\\n]"')
names <- c(base, info, format)
cmd <- paste0('bcftools query --format ', fmt, ' ', args$vcf, ' -r ', args$chrom, ':', args$pos, '-', args$pos)
if (!is.null(args$samples)) cmd <- paste(cmd, '--samples', args$samples)
if (!is.null(args$samples_file)) cmd <- paste(cmd, '--samples-file', args$samples_file)
write(paste('Command:', cmd), stderr())
if (packageVersion('data.table') < '1.11.6') {
  df <- setNames(fread(cmd, sep = '\t', header = FALSE, na.strings = '.', data.table = FALSE), names)
} else {
  df <- setNames(fread(cmd = cmd, sep = '\t', header = FALSE, na.strings = '.', data.table = FALSE), names)
}
if (!is.null(args$id)) {
  if (!(args$id %in% unique(df$ID))) stop('Specified ID not present at specified location')
  df <- df[df$ID == args$id,]
} else {
  if ( length(unique(df$ID)) > 1 ) stop('More than one variant at the specified position, use --id to specify which variant to plot')
}
v <- sapply(df[, info], unique)

if (args$illumina) {
  p1 <- ggplot(df, aes(x = Y, y = X, color = GT, shape = GT)) +
    geom_point(size = .5) +
    scale_x_continuous(limits = c(0, NA), expand = expand_scale(mult = c(0, .05))) +
    scale_y_continuous(limits = c(0, NA), expand = expand_scale(mult = c(0, .05))) +
    theme_bw(base_size = args$fontsize) +
    theme(legend.position = 'none')
  p2 <- ggplot(df, aes(x = NORMY, y = NORMX, color = GT, shape = GT)) +
    geom_point(size = .5) +
    scale_x_continuous(limits = c(0, NA), expand = expand_scale(mult = c(0, .05))) +
    scale_y_continuous(limits = c(0, NA), expand = expand_scale(mult = c(0, .05))) +
    theme_bw(base_size = args$fontsize) +
    theme(legend.position = 'none')
  if (args$zcall) {
    zthresh_X <- unique(df$zthresh_X)
    zthresh_Y <- unique(df$zthresh_Y)
    p2 <- p2 + geom_vline(xintercept = zthresh_Y, color = 'gray') +
      geom_hline(yintercept = zthresh_X, color = 'gray')
  }
  p3 <- ggplot(df, aes(x = THETA, y = R, color = GT, shape = GT)) +
    geom_point(size = .5) +
    scale_x_continuous(limits = c(0,1), expand = expand_scale(0)) +
    theme_bw(base_size = args$fontsize) +
    theme(legend.position = 'none')
  for (gt in c('AA', 'AB', 'BB')) {
    t <- seq(0, 2*pi, length.out = 100)
    x <- unname(v[paste0('meanTHETA_', gt)]) + unname(v[paste0('devTHETA_', gt)])*cos(t)
    y <- unname(v[paste0('meanR_', gt)]) + unname(v[paste0('devR_', gt)])*sin(t)
    p3 <- p3 + annotate('path', x = x, y = y)
  }
} else if (args$affymetrix) {
  p2 <- ggplot(df, aes(x = NORMX, y = NORMY, color = GT, shape = GT)) +
    geom_point(size = .5) +
    scale_x_continuous(limits = c(0, NA), expand = expand_scale(mult = c(0, .05))) +
    scale_y_continuous(limits = c(0, NA), expand = expand_scale(mult = c(0, .05))) +
    theme_bw(base_size = args$fontsize) +
    theme(legend.position = 'none')
  p3 <- ggplot(df, aes(x = DELTA, y = SIZE, color = GT, shape = GT)) +
    geom_point(size = .5) +
    theme_bw(base_size = args$fontsize) +
    theme(legend.position = 'none')
  for (gt in c('AA', 'AB', 'BB', 'AA.1', 'BB.1')) {
    a <- unname(v[paste0('varX_', gt)])
    b <- unname(v[paste0('covarXY_', gt)])
    c <- unname(v[paste0('varY_', gt)])
    lambda1 <- (a+c)/2 + sqrt(((a-c)/2)^2+b^2)
    lambda2 <- (a+c)/2 - sqrt(((a-c)/2)^2+b^2)
    theta <- atan2(lambda1 - a, b)
    t <- seq(0, 2*pi, length.out = 100)
    x <- unname(v[paste0('meanX_', gt)]) + sqrt(lambda1)*cos(theta)*cos(t) - sqrt(lambda2)*sin(theta)*sin(t)
    y <- unname(v[paste0('meanY_', gt)]) + sqrt(lambda1)*sin(theta)*cos(t) + sqrt(lambda2)*cos(theta)*sin(t)
    if (args$birdseed) {
      p2 <- p2 + annotate('path', x = x, y = y)
    } else {
      p3 <- p3 + annotate('path', x = x, y = y)
    }
  }
}
p4 <- ggplot(df, aes(x = BAF, y = LRR, color = GT, shape = GT)) +
  geom_point(size = .5) +
  theme_bw(base_size = args$fontsize) +
  theme(legend.position = 'bottom', legend.box = 'horizontal')

if (!is.null(args$pdf)) {
  pdf(args$pdf, width = args$width, height = args$height)
} else {
  png(args$png, width = args$width, height = args$height, units = 'in', res = 150)
}

if (args$minimal) {
  grid.arrange(p2, p4, nrow = 2, ncol = 1, heights = c(3, 4), top = unique(df$ID))
} else {
  if (args$illumina) grid.arrange(p1, p2, p3, p4, nrow = 4, ncol = 1, heights = c(3, 3, 3, 4), top = unique(df$ID))
  else if (args$affymetrix) grid.arrange(p2, p3, p4, nrow = 3, ncol = 1, heights = c(3, 3, 4), top = unique(df$ID))
  else grid.arrange(p4, nrow = 1, ncol = 1, top = unique(df$ID))
}
invisible(dev.off())