Table 1.
Acronyms used in this review
| Abbreviation | Definition |
|---|---|
| 1KGP | 1000 Genomes Project |
| AFR | African ancestry |
| AMR | American ancestry |
| BNG | Bionanogenomics |
| bp | basepair |
| CNV | copy-number variant |
| DAVID | Database for Annotation, Visualization and Integrated Discovery |
| EAS | East asian ancestry |
| EUR | European ancestry |
| eQTL | expression quantitative trait locus |
| FST | fixation index |
| gnomAD | Genome Aggregation Database |
| GoNL | Genome of the Netherlands |
| GTEx | Genotype-Tissue Expression |
| hESC | human embryonic stem cells |
| HGSVC | Human Genome Structural Variation Consortium |
| Hi-C or HIC | high-throughout chromatin conformation capture |
| HiFi | high fidelity |
| HPRC | Human Pangenome Reference Consortium |
| HSD | human-specific segmental duplication |
| HSE | human-specific expansion |
| i2QTL | Integrated iPSC QTL |
| IGC | interlocus gene conversion |
| IL | Illumina |
| iPSC | induced Pluripotent Stem Cell |
| kbp | kilobasepairs |
| kya | thousand years ago |
| LD | linkage disequilibrium |
| LRS | long-read sequencing |
| Mbp | megabasepairs |
| mCNV | multiple (multiallelic) copy-number variant |
| MESA | Multi-Ethnic Study of Atherosclerosis |
| mya | million years ago |
| NAHR | non-allelic homologous recombination |
| NHEJ | non-homologous end-joining |
| ONT | Oxford Nanopore Technologies |
| PacBio or PB | Pacific Biosciences |
| PSVs | paralog-specific variants |
| SAS | South Asian ancestry |
| SD | segmental duplication |
| SINE | short interspersed nuclear element |
| SNV | single-nucleotide variant |
| SRS | short-read sequencing |
| SV | structural variant |
| SVA | SINE-R-VNTR-Alu |
| T2T | Telomore-to-Telomere |
| TAD | topologically-associated domain |