TABLE 1.
A glossary of key terms
| Term | Definition |
|---|---|
| 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 |