Development

.gitignore

@@ -2,3 +2,4 @@
 .Rhistory
 .RData
 .Ruserdata
+revdep/

CRAN-SUBMISSION

@@ -1,3 +1,3 @@
-Version: 0.5.5
-Date: 2025-05-14 16:17:56 UTC
-SHA: 067acfa2a94f0baee7a151efd10fb13d5d50509b
+Version: 0.6.2
+Date: 2025-09-18 12:16:11 UTC
+SHA: 142dc9524d88b47db88ddca2aa39cd729a8d5a0d

DESCRIPTION

@@ -1,9 +1,9 @@
 Package: BIGr
 Title: Breeding Insight Genomics Functions for Polyploid and Diploid Species
-Version: 0.5.5
+Version: 0.6.2
 Authors@R: c(person(given='Alexander M.',
                     family='Sandercock',
-                    email='ams866@cornell.edu',
+                    email='sandercock.alex@gmail.com',
                     role=c('cre','aut')),
              person(given='Cristiane',
                     family='Taniguti',
@@ -26,7 +26,7 @@ Authors@R: c(person(given='Alexander M.',
              person('Cornell', 'University',
                     role=c('cph'), 
                     comment = "Breeding Insight"))
-Maintainer: Alexander M. Sandercock <ams866@cornell.edu>
+Maintainer: Alexander M. Sandercock <sandercock.alex@gmail.com>
 Description: Functions developed within Breeding Insight to analyze
     diploid and polyploid breeding and genetic data. 'BIGr' provides the
     ability to filter variant call format (VCF) files, extract single nucleotide polymorphisms (SNPs) 
@@ -53,14 +53,16 @@ Imports:
     Rdpack (>= 0.7),
     readr (>= 2.1.5),
     reshape2 (>= 1.4.4),
+    rlang,
     tidyr (>= 1.3.1),
     vcfR (>= 1.15.0),
     Rsamtools,
     Biostrings,
     pwalign,
     janitor,
     quadprog,
-    tibble
+    tibble,
+    stringr
 Suggests: 
     covr,
     spelling,

NAMESPACE

@@ -1,24 +1,31 @@
 # Generated by roxygen2: do not edit by hand
 
+export(allele_freq_poly)
 export(calculate_Het)
 export(calculate_MAF)
 export(check_homozygous_trios)
 export(check_ped)
 export(check_replicates)
 export(dosage2vcf)
 export(dosage_ratios)
+export(filterMADC)
 export(filterVCF)
 export(flip_dosage)
 export(get_countsMADC)
 export(imputation_concordance)
+export(madc2gmat)
 export(madc2vcf_all)
 export(madc2vcf_targets)
 export(merge_MADCs)
+export(solve_composition_poly)
+export(thinSNP)
 export(updog2vcf)
 import(dplyr)
 import(janitor)
 import(parallel)
 import(quadprog)
+import(rlang)
+import(stringr)
 import(tibble)
 import(tidyr)
 import(vcfR)

NEWS.md

@@ -1,43 +1,54 @@
-# BIGr 0.3.3
+# BIGr 0.6.2
 
--   Adapt updog2vcf to model f1, f1pp, s1 and s1pp
+- Fixed the doi and name list in the CITATION file
 
-# BIGr 0.3.2
+# BIGr 0.6.1
 
--   updog2vcf function option to output compressed VCF (.vcf.gz) - set as default
--   remove need for defining ploidy
--   add metadata at the VCF header
+- Added new functions for filtering MADC files and converting to relationship matrices
+- Added function thinSNPs to thin SNPs based on physical distance
+- Added bug fixes and improvements to existing functions
 
-# BIGr 0.5.0
+# BIGr 0.5.5
 
--   Add imputation_concordance function to estimate accuracy of imputed and original dataset
--   Add get_OffTargets function to extract target and off-target SNPs from a MADC file
--   Add merge_MADCs function to merge two or more MADC files together
--   Improved documentation and examples for all functions
--   Add tests for all functions
+- Updated DESCRIPTION
+- Added return value for merge_MADCs
+- Added optional seed for check_ped
+- Added verbose option
 
-# BIGr 0.5.1
+# BIGr 0.5.4
 
--   Improvements of testthat tests
--   Add check_replicates and check_homozygous_trios for pedigree relationship quality check
+-   Updated dosage2vcf example
+
+# BIGr 0.5.3
+
+-   Updated madc2vcf_all example
 
 # BIGr 0.5.2
 
 -   madc2vcf function changed to madc2vcf_targets
 -   get_OffTargets function changed to madc2vcf_all
 -   Updates to testthat tests and function examples
 
-# BIGr 0.5.3
+# BIGr 0.5.1
 
--   Updated madc2vcf_all example
+-   Improvements of testthat tests
+-   Add check_replicates and check_homozygous_trios for pedigree relationship quality check
 
-# BIGr 0.5.4
+# BIGr 0.5.0
 
--   Updated dosage2vcf example
+-   Add imputation_concordance function to estimate accuracy of imputed and original dataset
+-   Add get_OffTargets function to extract target and off-target SNPs from a MADC file
+-   Add merge_MADCs function to merge two or more MADC files together
+-   Improved documentation and examples for all functions
+-   Add tests for all functions
 
-# BIGr 0.5.5
+# BIGr 0.3.3
+
+-   Adapt updog2vcf to model f1, f1pp, s1 and s1pp
+
+# BIGr 0.3.2
+
+-   updog2vcf function option to output compressed VCF (.vcf.gz) - set as default
+-   remove need for defining ploidy
+-   add metadata at the VCF header
 
-- Updated DESCRIPTION
-- Added return value for merge_MADCs
-- Added optional seed for check_ped
-- Added verbose option

R/breedtools_functions.R

@@ -32,7 +32,7 @@
 #' allele_freqs <- allele_freq_poly(geno = geno_matrix, populations = pop_list, ploidy = 4)
 #' print(allele_freqs)
 #'
-#' @noRd
+#' @export
 allele_freq_poly <- function(geno, populations, ploidy = 2) {
 
   # Initialize returned df
@@ -168,7 +168,7 @@ QPsolve <- function(Y, X) {
 #'                                       ploidy = 4)
 #' print(composition)
 #'
-#' @noRd
+#' @export
 solve_composition_poly <- function(Y,
                                    X,
                                    ped = NULL,

R/filterMADC.R

@@ -0,0 +1,215 @@
+#' Filter MADC Files
+#'
+#' Filter and process MADC files to remove low quality microhaplotypes
+#'
+#' @details
+#' This function can filter raw MADC files or pre-processed MADC files with fixed allele IDs. Additionally,
+#' it can filter based on mean read depth, number of mhaps per target loci, and other criteria. Optionally, users
+#' can plot summary statistics and save the filtered data to a file.
+#'
+#'@import dplyr
+#'@importFrom utils read.csv
+#'
+#'@param madc_file Path to the MADC file to be filtered
+#'@param min.mean.reads Minimum mean read depth for filtering
+#'@param max.mean.reads Maximum mean read depth for filtering
+#'@param max.mhaps.per.loci Maximum number of matching mhaps per target loci. Retains only the target Ref and Alt loci at the sites that exceeds the \code{max.mhaps.per.loci} threshold.
+#'@param min.reads.per.site Minimum number of reads per site for \code{min.ind.with.reads}. Otherwise, this parameter is ignored
+#'@param min.ind.with.reads Minimum number of individuals with \code{min.reads.per.site} reads for filtering
+#'@param target.only Logical indicating whether to filter for target loci only
+#'@param n.summary.columns (optional) Number of summary columns to remove from MADC file not including the first three. Otherwise, the columns will be automatically detected and removed.
+#@param plot.summary Logical indicating whether to plot summary statistics
+#'@param output.file Path to save the filtered data (if NULL, data will not be saved)
+#'
+#'@return data.frame or saved csv file
+#'
+#'@examples
+#' #Example
+#'
+#' #Example MADC
+#' madc_file <- system.file("example_MADC_FixedAlleleID.csv", package="BIGr")
+#'
+#' #Remove mhaps exceeding 3 per target region including the ref and alt target mhaps
+#' filtered_df <- filterMADC(madc_file,
+#'                          min.mean.reads = NULL,
+#'                          max.mean.reads = NULL,
+#'                          max.mhaps.per.loci = 3,
+#'                          min.reads.per.site = 1,
+#'                          min.ind.with.reads = NULL,
+#'                          target.only = FALSE,
+#'                          n.summary.columns = NULL,
+#'                          output.file = NULL)
+#'
+#'
+#'
+#'@export
+filterMADC <- function(madc_file,
+                       min.mean.reads = NULL,
+                       max.mean.reads = NULL,
+                       max.mhaps.per.loci = NULL,
+                       min.reads.per.site = 1,
+                       min.ind.with.reads = NULL,
+                       target.only = FALSE,
+                       n.summary.columns = NULL,
+                       #plot.summary = FALSE,
+                       output.file = NULL) {
+
+
+  #Need to first inspect the first 7 rows of the MADC to see if it has been preprocessed or not
+  first_seven_rows <- read.csv(madc_file, header = FALSE, nrows = 7, colClasses = c(NA, "NULL"))
+
+  #Check if all entries in the first column are either blank or "*"
+  check_entries <- all(first_seven_rows[, 1] %in% c("", "*"))
+
+  #Check if the MADC file has the filler rows or is processed from updated fixed allele ID pipeline
+  if (check_entries) {
+    #Note: This assumes that the first 7 rows are placeholder info from DArT processing
+
+    warning("The MADC file has not been pre-processed for Fixed Allele IDs. The first 7 rows are placeholder info from DArT processing.")
+
+    #Read the madc file
+    filtered_df <- read.csv(madc_file, sep = ',', skip = 7, check.names = FALSE)
+
+    #Remove extra text after Ref and Alt (_001 or _002)
+    #filtered_df$AlleleID <- sub("\\|Ref_.*", "|Ref", filtered_df$AlleleID)
+    #filtered_df$AlleleID <- sub("\\|Alt_.*", "|Alt", filtered_df$AlleleID)
+
+  } else {
+
+    #Read the madc file
+    filtered_df <- read.csv(madc_file, sep = ',', check.names = FALSE)
+
+    #Remove extra text after Ref and Alt (_001 or _002)
+    #filtered_df$AlleleID <- sub("\\|Ref_.*", "|Ref", filtered_df$AlleleID)
+    #filtered_df$AlleleID <- sub("\\|Alt_.*", "|Alt", filtered_df$AlleleID)
+
+  }
+  #Check for extra columns
+  #Save the three columns for later adding to the output
+  saved_columns <- filtered_df[,1:3]
+
+  if (!is.null(n.summary.columns)) {
+    #Remove the first n.summary.columns columns
+    filtered_df <- filtered_df[,-c(4:n.summary.columns)]
+  }else{
+    rm.col <- c("ClusterConsensusSequence",
+                "CallRate", "OneRatioRef", "OneRatioSnp", "FreqHomRef", "FreqHomSnp",
+                "FreqHets", "PICRef", "PICSnp", "AvgPIC", "AvgCountRef", "AvgCountSnp","RatioAvgCountRefAvgCountSnp")
+
+    filtered_df <- filtered_df[, !(colnames(filtered_df) %in% rm.col)]
+  }
+
+  #Now add rownames
+  rownames(filtered_df) <- saved_columns[,1]
+
+  #Remove refmatch and altmatch if wanted
+  if (target.only) {
+    message("Retaining target markers only")
+    #Retain only the Ref and Alt haplotypes
+    filtered_df <- filtered_df[!grepl("\\|AltMatch|\\|RefMatch", filtered_df$AlleleID), ]
+  }
+
+  ## Filtering
+
+  #Min mean reads
+  if (!is.null(min.mean.reads)) {
+    message("Filtering for minimum mean reads across all samples")
+    #Get the mean value for each row, and remove the rows below that threshold
+    filtered_df$MeanReads <- rowMeans(filtered_df[, -c(1:3)], na.rm = TRUE)
+    filtered_df <- filtered_df[filtered_df$MeanReads >= min.mean.reads, ]
+    #Remove the MeanReads column
+    filtered_df <- filtered_df[, -which(colnames(filtered_df) == "MeanReads")]
+  }
+
+  #Max mean reads
+  if (!is.null(max.mean.reads)) {
+    message("Filtering for maximum mean reads across all samples")
+    #Get the mean value for each row, and remove the rows above that threshold
+    filtered_df$MeanReads <- rowMeans(filtered_df[, -c(1:3)], na.rm = TRUE)
+    filtered_df <- filtered_df[filtered_df$MeanReads <= max.mean.reads, ]
+    #Remove the MeanReads column
+    filtered_df <- filtered_df[, -which(colnames(filtered_df) == "MeanReads")]
+  }
+
+  #Max mhaps per loci
+  if (!is.null(max.mhaps.per.loci)) {
+    message("Filtering for maximum number of matching mhaps per target loci")
+    #Get the number of matching mhaps for loci, and remove the mhaps at those loci that exceed the max number
+    mhap_counts <- filtered_df %>%
+      group_by(CloneID) %>%
+      summarise(Count = n(), .groups = 'drop') %>%
+      filter(Count > max.mhaps.per.loci)
+
+    patterns_to_search <- "\\|AltMatch|\\|RefMatch"
+    clone_ids_to_target <- mhap_counts$CloneID
+
+    filtered_df <- filtered_df %>%
+      filter(
+        !( # "keep rows that DO NOT match both conditions"
+          CloneID %in% clone_ids_to_target &  # Condition 1: CloneID is one of the targeted IDs
+            grepl(patterns_to_search, AlleleID) # Condition 2: AlleleID contains one of the patterns
+        )
+      )
+  }
+
+  #Min individuals with reads
+  if (!is.null(min.ind.with.reads)) {
+    message("Filtering for minimum number of individuals with reads per site")
+    message(paste0("Minimum number of individuals with reads per site: ", min.ind.with.reads))
+    message(paste0("Minimum number of reads per site: ", min.reads.per.site))
+
+    #Getting colnames
+    cols_to_check <- colnames(filtered_df)[-(1:3)]
+
+    filtered_df <- filtered_df %>%
+      rowwise() %>%  # Process data row by row
+      mutate(
+        # For each row, count how many of the 'cols_to_check' meet the criterion
+        qualifying_sites_count = sum(
+          c_across(all_of(cols_to_check)) >= min.reads.per.site,
+          na.rm = TRUE # Treats NAs in data as not meeting the criterion
+        )
+      ) %>%
+      ungroup() %>% # Always ungroup after rowwise operations
+      # Filter rows where this count meets the 'min.ind.with.reads' threshold
+      filter(qualifying_sites_count >= min.ind.with.reads) %>%
+      # Optionally, remove the temporary count column if it's no longer needed
+      select(-qualifying_sites_count)
+  }
+
+  #Plots
+  #if (plot.summary) {
+  #  message("Plotting summary statistics")
+  #  #Plot mean read depth
+  #  mean_reads <- rowMeans(filtered_df[, -c(1:3)], na.rm = TRUE)
+  #  hist(mean_reads, main = "Mean Read Depth", xlab = "Mean Reads", ylab = "Frequency")
+
+  #  #Plot number of Altmatch and Refmatch mhaps per target loci
+  #  altmatch_counts <- filtered_df %>%
+  #    filter(grepl("\\|AltMatch", AlleleID)) %>%
+  #    group_by(CloneID) %>%
+  #    summarise(Count = n(), .groups = 'drop')
+
+  #  refmatch_counts <- filtered_df %>%
+  #    filter(grepl("\\|RefMatch", AlleleID)) %>%
+  #    group_by(CloneID) %>%
+  #    summarise(Count = n(), .groups = 'drop')
+
+  #  barplot(cbind(altmatch_counts$Count, refmatch_counts$Count), beside = TRUE,
+  #          names.arg = altmatch_counts$CloneID, main = "Number of AltMatch and RefMatch Mhaps",
+  #          xlab = "Clone ID", ylab = "Count")
+
+    #Plot density of number of CloneID per site on a marker distribution plot
+
+  #}
+
+  #Save the output to disk if file name provided
+  if (!is.null(output.file)) {
+    message("Saving filtered data to file")
+    write.csv(filtered_df, paste0(output.file,".csv"), row.names = FALSE)
+  } else {
+    message("No output file provided. Returning filtered data.")
+    return(filtered_df)
+  }
+
+}