Ancestral recombination graph (ARG) |
A graphical representation of the complete ancestry of a sample of genomes through a series of coalescence and recombination events. The ARG can be decomposed into a series of marginal trees that give the relationships between samples within each nonrecombining region |
Branch |
A part of a genealogical tree at a single locus, which connects two coalescence events |
Coalescence |
The merging of lineages in a common ancestor, as one traces lineages backward in time |
Edge |
A set of genomic regions that are the immediate ancestors of a specific coalescence event, and that are ancestral to a specific set of sampled genomes. An edge has two dimensions (generations × map length). Any SNP that falls on an edge will be shared by the set of descendant genomes, and only by those genomes |
Haplotype |
A haploid genotype. A diploid genotype consists of a pair of haplotypes |
Haplotype block |
The set of genomic regions that descend from a particular edge in the ARG, which is defined by a unique coalescence event, and by the set of descendant samples |
Identity by descent (IBD) |
Segments of the genome are identical by descent if they descend from the same common ancestor |
Lineage |
A chain of genes that descends from parent to offspring, or (tracing backwards) from offspring to parent |
Linkage disequilibrium (LD) |
Nonrandom association of alleles at different loci |
Phasing |
The process of assigning alleles to the maternal and paternal chromosomes in a diploid individual |
Time to most recent common ancestor (TMRCA) |
The time of the most recent coalescence event from which a focal set of samples descends |