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| Phylogenetische Einzelzellanalyse× | Varianten-Calling× | |
|---|---|---|
| Fachgebiet | Bioinformatik | Bioinformatik |
| Familie | Process / pipeline | Process / pipeline |
| Entstehungsjahr≠ | 2014-2020 (rapid development period) | 2009–2010 (modern high-throughput era) |
| Urheber≠ | Multiple groups; foundational tools: Trapnell et al. (Monocle, 2014), Jones et al. (Cassiopeia, 2020) | Li et al. (SAMtools/bcftools, 2009); McKenna et al. (GATK, 2010) |
| Typ≠ | Computational phylogenetic inference pipeline | Computational genomics pipeline |
| Wegweisende Quelle≠ | Jones, M. G., Khodaverdian, A., Quinn, J. J., Chan, M. M., Hussmann, J. A., Wang, R., Xu, C., Weissman, J. S., & Yosef, N. (2020). Inference of single-cell phylogenies from lineage tracing data using Cassiopeia. Genome Biology, 21(1), 92. DOI ↗ | 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 ↗ |
| Aliasnamen | scPhylogeny, single-cell lineage tracing, clonal phylogenetics, single-cell tree inference | SNP calling, genotyping from sequencing, mutation detection, variant detection |
| Verwandt≠ | 4 | 6 |
| Zusammenfassung≠ | Single-cell phylogenetic analysis reconstructs evolutionary or developmental trees from single-cell sequencing data, tracing how individual cells diverged from a common ancestor. By leveraging somatic mutations, CRISPR-introduced barcodes, or copy-number changes as heritable characters, this method maps clonal relationships within tumors, developing tissues, or immune repertoires with unprecedented cellular resolution. | 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. |
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