--- title: "1. How to tidy a pedigree" author: "Sheng Luan" date: "`r Sys.Date()`" output: rmarkdown::html_vignette vignette: > %\VignetteIndexEntry{1. How to tidy a pedigree} %\VignetteEngine{knitr::rmarkdown} %\VignetteEncoding{UTF-8} --- ```{r setup, include = FALSE} knitr::opts_chunk$set( collapse = TRUE, comment = "#>", fig.width = 6.5, fig.height = 6.5, dpi = 96, out.width = "100%" ) library(visPedigree) ``` Pedigrees are fundamental to both animal and plant breeding. They are used to improve the accuracy of breeding value estimation, to monitor and manage inbreeding, and to support a wide range of downstream analyses based on ancestry and relatedness. In applied settings, however, pedigree data are often incomplete or poorly ordered: founders may be omitted, parents may appear after offspring, and sex annotations may be missing or inconsistent. In addition, pedigrees are commonly stored in a simple three-column form (individual, sire, dam), which is convenient for storage but less convenient for checking structure, tracing relatives, or producing readable graphical displays. Several software tools address parts of this workflow. On Windows, pedigraph and [pedigree viewer](https://bkinghor.une.edu.au/pedigree.htm) provide facilities for pedigree trimming and display. Within R, packages such as `pedigree`, `nadiv`, and `optiSel` support pedigree preparation and analysis, while `kinship2` can be used to draw pedigree trees. Nevertheless, large pedigrees continue to pose practical difficulties for data cleaning, loop detection, multi-generation tracing, and graphical display with limited node overlap. The [visPedigree](https://github.com/luansheng/visPedigree) package was developed to provide an integrated workflow for pedigree tidying, analysis, and visualization. Built on `data.table`, C++, and `igraph`, it supports pedigree standardization, loop detection, candidate tracing, integer pedigree construction, generation assignment, and optional inbreeding calculation, together with scalable pedigree visualization. The package is designed for both animal and plant pedigrees, including selfing or monoecious mating systems. This guide focuses on the tidying workflow and introduces the main arguments and outputs of `tidyped()`. The main contents of this guide are as follows: 1. [Installation of the visPedigree package](#1) 2. [The specification of pedigree format](#2) 3. [Checking and tidying pedigree](#3) 3.1 [Introduction](#3-1) 3.2 [Pedigree loop detection](#3-2) 3.3 [Tracing the pedigree of a specific individual](#3-3) 3.4 [Creating an integer pedigree](#3-4) 3.5 [Calculating inbreeding coefficients](#3-5) 3.6 [Customizing generation assignment](#3-6) 3.7 [Summarizing the pedigree](#3-7) 3.8 [Splitting large pedigrees](#3-8) ## 1. Installation of the visPedigree package {#1} The visPedigree package can be installed from CRAN: ```r install.packages("visPedigree") ``` Or from GitHub: ```r # install.packages("devtools") devtools::install_github("luansheng/visPedigree") ``` ## 2. Pedigree format specification {#2} The first three columns of pedigree data must be in the order of individual, sire, and dam IDs. The column names can be customized, but their order must remain unchanged. Individual IDs should not be coded as `""`, `" "`, `"0"`, `*`, or `NA`; otherwise, they will be removed from the pedigree. Missing parents should be denoted by `NA`, `0`, or `*`. Spaces and empty strings (`""`) will also be treated as missing parents, though this is not recommended. Additional columns, such as sex and generation, can also be included. ## 3. Checking and tidying pedigree {#3} ### 3.1 Introduction {#3-1} The pedigree can be checked and tidied through the `tidyped()` function. This function takes a pedigree, checks for duplicates and bisexual individuals, detects loops, adds missing founders, sorts the pedigree, and traces candidate pedigrees. If the `cand` parameter is provided, only those individuals and their ancestors or descendants are retained. Tracing direction and the number of generations can be specified using the `trace` and `tracegen` parameters. Virtual generations are inferred and assigned when `addgen = TRUE`. A numeric pedigree is generated when `addnum = TRUE`. Sex will be inferred for all individuals if sex information is missing. If a `Sex` column is present, values should be coded as `'male'`, `'female'`, or `NA` (unknown). Missing sex information will be inferred from the pedigree structure where possible. The visPedigree package comes with multiple datasets. You can check through the following command. ```{r gettingdataset,eval=FALSE} data(package="visPedigree") ``` The following code displays the `simple_ped` dataset, which contains four columns: individual, sire, dam, and sex. Missing parents are denoted by `'NA'`, `'0'`, or `*`. Founders are not explicitly listed, and some parents appear after their offspring in the original data. ```{r simpleped} head(simple_ped) tail(simple_ped) # The number of individuals in the pedigree dataset nrow(simple_ped) # Individual records with missing parents simple_ped[Sire %in% c("0", "*", "NA", NA) | Dam %in% c("0", "*", "NA", NA)] ``` Example: If we incorrectly set the female `J0Z167` as the sire of `J2F588`, `tidyped()` will detect this bisexual conflict. ```{r, error=TRUE} x <- data.table::copy(simple_ped) x[ID == "J2F588", Sire := "J0Z167"] y <- tidyped(x) ``` The `tidyped()` function sorts the pedigree, replaces missing parents with `NA`, ensures parents precede their offspring, and adds missing founders. ```{r tidyped} tidy_simple_ped <- tidyped(simple_ped) head(tidy_simple_ped) tail(tidy_simple_ped) nrow(tidy_simple_ped) ``` In the resulting `tidy_simple_ped`, founders are added with their inferred sex, and parents are sorted before their offspring. The number of individuals increases from 31 to 59. The columns are renamed to `Ind`, `Sire`, and `Dam`. Missing parents are uniformly replaced with `NA`, and `tidyped()` provides informative messages during processing. By default, `tidy_simple_ped` includes new columns: `Gen`, `IndNum`, `SireNum`, and `DamNum`. These can be disabled by setting `addgen = FALSE` and `addnum = FALSE`. If the input dataset lacks a `Sex` column, it will be automatically added to the tidied output. ```{r} tidy_simple_ped_no_gen_num <- tidyped(simple_ped, addgen = FALSE, addnum = FALSE) head(tidy_simple_ped_no_gen_num) ``` Once tidied, you can use `data.table::fwrite()` to export the pedigree for genetic evaluation software like ASReml. ### 3.2 Pedigree loop detection {#3-2} A pedigree loop occurs when an individual is its own ancestor (e.g., A is the parent of B, B is the parent of C, and C is the parent of A). This is a biological impossibility and a serious error in pedigree records. The `tidyped()` function automatically detects these cycles using graph theory algorithms. If a loop is detected, the function will stop and provide information about the individuals involved in the loop. The following code demonstrates what happens when a pedigree with loops is processed: ```{r loop_detection, error=TRUE} # loop_ped contains cycles (e.g., V -> T -> R -> P -> M -> V) # Attempting to tidy it will result in an error try(tidyped(loop_ped)) ``` Detecting loops early is crucial for ensuring the integrity of genetic evaluations. When saving the pedigree, missing parents should typically be replaced with `0`. ```{r writeped,eval=FALSE} saved_ped <- data.table::copy(tidy_simple_ped) saved_ped[is.na(Sire), Sire := "0"] saved_ped[is.na(Dam), Dam := "0"] data.table::fwrite( x = saved_ped, file = tempfile(fileext = ".csv"), sep = ",", quote = FALSE ) ``` ### 3.3 Tracing the pedigree of a specific individual {#3-3} To trace the pedigree of specific individuals, use the `cand` parameter. This adds a `Cand` column where `TRUE` identifies the specified candidates. If `cand` is provided, only the candidates and their ancestors/descendants are retained. ```{r} tidy_simple_ped_J5X804_ancestors <- tidyped(ped = tidy_simple_ped_no_gen_num, cand = "J5X804") tail(tidy_simple_ped_J5X804_ancestors) ``` By default, the function traces ancestors. You can limit the number of generations using `tracegen`. If `tracegen` is `NULL`, all available generations are traced. ```{r} tidy_simple_ped_J5X804_ancestors_2 <- tidyped(ped = tidy_simple_ped_no_gen_num, cand = "J5X804", tracegen = 2) print(tidy_simple_ped_J5X804_ancestors_2) ``` The code above traces the ancestors of `J5X804` back two generations. To trace descendants, set `trace = 'down'`. There are three options for the **trace** parameter: * "up"-trace candidates' pedigree to ancestors; * "down"-trace candidates' pedigree to descendants; * "all"-trace candidaes' pedigree to ancestors and descendants simultaneously. ```{r} tidy_simple_ped_J0Z990_offspring <- tidyped(ped = tidy_simple_ped_no_gen_num, cand = "J0Z990", trace = "down") print(tidy_simple_ped_J0Z990_offspring) ``` Tracing the descendants of `J0Z990` reveals a total of 5 individuals. ### 3.4 Creating an integer pedigree {#3-4} Certain genetic evaluation programs require integer-coded pedigrees, where individuals are numbered consecutively to facilitate the calculation of the additive genetic relationship matrix. By default, `tidyped()` adds `IndNum`, `SireNum`, and `DamNum` columns. This can be disabled with `addnum = FALSE`. ```{r intped} tidy_simple_ped_with_int <- tidyped(ped = tidy_simple_ped_no_gen_num, addnum = TRUE) head(tidy_simple_ped_with_int) ``` ### 3.5 Calculating inbreeding coefficients {#3-5} The inbreeding coefficient (F) of each individual can be calculated using tidyped() or inbreed() functions. There are two options to add the inbreeding coefficients to a tidied pedigree: 1. Set `inbreed = TRUE` in the `tidyped()` function. This will calculate the inbreeding coefficients using an optimized C++ implementation of the Sargolzaei & Iwaisaki (2005) LAP bucket algorithm and add an `f` column to the tidied pedigree. 2. Or call `inbreed()` directly on a tidied pedigree to add the `f` column. Both options use the same high-performance engine as `pedmat(method = "f")`, ensuring consistent results across the package. ```{r inbreed} # Create a simple inbred pedigree library(data.table) test_ped <- data.table( Ind = c("A", "B", "C", "D", "E"), Sire = c(NA, NA, "A", "C", "C"), Dam = c(NA, NA, "B", "B", "D"), Sex = c("male", "female", "male", "female", "male") ) # Option 1: Calculate during tidying tidy_test <- tidyped(test_ped, inbreed = TRUE) head(tidy_test) # Option 2: Calculate after tidying tidy_test <- inbreed(tidyped(test_ped)) ``` ### 3.6 Customizing generation assignment {#3-6} Generation inference is essential for pedigree visualization. `tidyped()` provides two methods for assigning generation numbers via the `genmethod` parameter: * **"top" (default)**: Top-aligned (depth-based). Founders are assigned to Generation 1. This is the optimal scheme for most biological pedigrees as it ensures all founders start at the top, preventing them from "drifting" to lower generations if they have fewer descendants. * **"bottom"**: Bottom-aligned (height-based). Generations are counted from the bottom up, aligning terminal nodes (offspring with no further descendants) at the highest generation number. This is useful when you want to show that all current populations are at the same level, or when introducing unrelated exogenous parents in later years. ```{r genmethod} # Default behavior (Top-Down): J2Y434 is at Gen 3 tidy_top <- tidyped(simple_ped, genmethod = "top") tidy_top[Ind == "J2Y434"] # Bottom-Up behavior: J2Y434 is at Gen 6 tidy_bottom <- tidyped(simple_ped, genmethod = "bottom") tidy_bottom[Ind == "J2Y434"] ``` ### 3.7 Summarizing the pedigree {#3-7} The `summary()` method provides a quick overview of the pedigree statistics, including the number of individuals, sex distribution, founders, and isolated individuals. If inbreeding coefficients have been calculated (column `f`), the summary will also include descriptive statistics of inbreeding. ```{r summary} # Summarize the tidied pedigree summary(tidy_simple_ped) ``` ### 3.8 Splitting large pedigrees {#3-8} For extremely large pedigrees, it is sometimes useful to split them into disconnected subsets or "sub-pedigrees". The `splitped()` function automatically detects disconnected components (families that share no ancestors) and splits the pedigree into a list of smaller `tidyped` objects. ```{r splitped} # Split the pedigree into components sub_pedigrees <- splitped(tidy_simple_ped) # View summary of the split result summary(sub_pedigrees) # Access a specific sub-pedigree # first_sub <- sub_pedigrees[[1]] ``` --- **See Also:** - `vignette("draw-pedigree", package = "visPedigree")` - `vignette("relationship-matrix", package = "visPedigree")`