Topics
From the Human Genome Project to Large-Scale Genomic Consortia
One of the enduring legacies of the Human Genome Project has been the recognition of the power of joining forces, driving a lasting shift toward large-scale, collaborative initiatives. Among others:
- ENCODE – functional annotation of regulatory elements in the genome
- 1000 Genomes Project – global catalog of human genetic variation
- The Cancer Genome Atlas – molecular characterization of cancer genomes
- gnomAD – population-scale allele frequency resource
- JASPAR – curated transcription factor binding profiles
- International HapMap Project – mapping common patterns of human genetic variation
- GTEx Project – gene expression across human tissues
- Human Cell Atlas – comprehensive reference of human cell types
A new research paradigm: international collaborations, vastly larger sample sizes beyond the reach of individual laboratories, open data accessibility, standardized methods, and enhanced documentation and reproducibility.