Table 1.
Recent Technological Advances in Cytogenetics and Genomics.
| Technique | Uses | Example References |
|---|---|---|
| Chromosome microdissection and sequencing | Sequencing individual chromosomes/chromosome segments and haplotyping | [3,4,5] |
| Flow sorting of chromosomes and sequencing | Assigning sequences to chromosomes | [6,7] |
| Fibre-fluorescence in situ hybridisation (FISH) | Ordering of sequences large insert clones on a DNA fibre | [8] |
| Universal probe set and multiprobe slides | Rapid bacterial artificial chromosome (BAC) mapping across multiple species | [9] |
| Homologue-specific oligopaints | Visually distinguish single copy regions of homologous chromosomes | [10] |
| Super-resolution microscopy | Imaging of chromatin and nuclear organisation | [11] |
| BioNano | Genome mapping to improve assemblies and detect structural variations | [12] |
| Long-read sequencing (e.g., PacBio, Oxford Nanopore) | Improving genome assemblies, identifying structural variants | [13,14,15] |
| Linked-read sequencing (10X Chromium) | Phasing and improving scaffolding of genome assemblies | [16] |
| Hi-C sequencing and CHiA-PET | Chromatin interactions and improving genome assemblies (Hi-C) | [17,18,19] |