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| Analisis Variasi Bilangan Salinan Siri Masa× | Pemanggilan Varian× | |
|---|---|---|
| Bidang | Bioinformatik | Bioinformatik |
| Keluarga | Process / pipeline | Process / pipeline |
| Tahun asal≠ | 2010s–present | 2009–2010 (modern high-throughput era) |
| Pengasas≠ | Developed from foundational CNV methods (Olshen et al. 2004; Ding et al. 2010) extended to longitudinal tumor genomics frameworks | Li et al. (SAMtools/bcftools, 2009); McKenna et al. (GATK, 2010) |
| Jenis | Computational genomics pipeline | Computational genomics pipeline |
| Sumber perintis≠ | Dentro, S. C., et al. (2021). Characterizing genetic intra-tumor heterogeneity across 2,658 human cancer genomes. Cell, 184(8), 2239-2254. link ↗ | McKenna, A., Hanna, M., Banks, E., Sivachenko, A., Cibulskis, K., Kernytsky, A., ... & DePristo, M. A. (2010). The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data. Genome Research, 20(9), 1297–1303. DOI ↗ |
| Alias | longitudinal CNV analysis, temporal copy number analysis, time-series CNV profiling, serial CNV analysis | SNP calling, genotyping from sequencing, mutation detection, variant detection |
| Berkaitan≠ | 5 | 6 |
| Ringkasan≠ | 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. | Variant calling is the computational process of identifying positions in a sequenced genome that differ from a reference sequence — including single nucleotide polymorphisms (SNPs), small insertions and deletions (indels), and structural variants. It transforms aligned sequencing reads into an interpretable catalogue of genetic differences, forming the foundation for population genetics, disease-gene discovery, and clinical genomics applications. |
| ScholarGateSet data ↗ |
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