Genomics: Genome Sequencing, Genetic Variation & AI Interpretation
Katja Kobow · 6 concepts · 10 questions
Concept 1 / 6
Genomics vs. Genetics & a Short History of Sequencing
Genomics and genetics are related but distinct fields:
| Field | Studies | Focus |
|---|---|---|
| Genomics | The entire genome — the full set of DNA, including all genes and noncoding sequences | How this information influences biology, health, and disease |
| Genetics | Individual genes and how hereditary traits pass from one generation to the next | The function, variation, and inheritance of specific genes |
From micro to macro: the body is organized across scales. The visible levels run brain → grey/white matter → cells → nucleus with chromatin. These are produced from invisible molecular building blocks following the central dogma: DNA → RNA (transcription) → Protein (translation).
Short history of sequencing (key milestones):
- 1980 — Nobel Prize for DNA sequencing (Berg, Gilbert, Sanger)
- 2001 — Human Genome Project completed (Sanger sequencing)
- 2005 — NGS (next-generation / massively parallel sequencing); cost dropped from the ~2.7 billion USD Human Genome Project toward under 1,000 USD per genome
- 2014 — 3rd-generation long-read sequencing (Nanopore)
- 2021 — Nobel Prize for CRISPR/Cas (Charpentier, Doudna)