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| Analyse de la variation du nombre de copies dans le temps× | Étude d'association pangénomique (GWAS)× | |
|---|---|---|
| Domaine | Bio-informatique | Bio-informatique |
| Famille | Process / pipeline | Process / pipeline |
| Année d'origine≠ | 2010s–present | 2005–2007 |
| Auteur d'origine≠ | Developed from foundational CNV methods (Olshen et al. 2004; Ding et al. 2010) extended to longitudinal tumor genomics frameworks | Klein et al. (age-related macular degeneration GWAS, 2005); landmark scale: Wellcome Trust Case Control Consortium (2007) |
| Type≠ | Computational genomics pipeline | Observational genomic association study |
| Source fondatrice≠ | Dentro, S. C., et al. (2021). Characterizing genetic intra-tumor heterogeneity across 2,658 human cancer genomes. Cell, 184(8), 2239-2254. link ↗ | Wellcome Trust Case Control Consortium. (2007). Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature, 447(7145), 661–678. link ↗ |
| Alias | longitudinal CNV analysis, temporal copy number analysis, time-series CNV profiling, serial CNV analysis | GWAS, genome-wide association analysis, whole-genome association study, WGAS |
| Apparentées≠ | 5 | 6 |
| Résumé≠ | Time-series copy number variation (CNV) analysis is a computational genomics pipeline that characterizes chromosomal gains and losses across multiple sequential samples from the same individual or tumor. By comparing copy number profiles at successive time points — such as diagnosis, mid-treatment, relapse — it reconstructs the clonal dynamics and evolutionary trajectories driving genome instability, enabling researchers to track how sub-populations expand, contract, or acquire new aberrations over time. | A genome-wide association study (GWAS) systematically tests hundreds of thousands to millions of single-nucleotide polymorphisms (SNPs) across the human genome for statistical association with a trait or disease. By comparing allele frequencies between cases and controls — or by regressing SNP genotypes on a quantitative phenotype — GWAS identifies genomic loci that harbor common genetic variants contributing to complex traits. Since its large-scale debut in 2007, GWAS has catalogued thousands of robust disease–variant associations across virtually every common human condition. |
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