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Phylogenetic Analysis×Variant Calling×
Lĩnh vựcTin sinh họcTin sinh học
HọProcess / pipelineProcess / pipeline
Năm ra đời1960s-1981 (distance trees ~1967; ML framework formalised 1981)2009–2010 (modern high-throughput era)
Người khởi xướngJoseph Felsenstein (maximum likelihood framework); Walter Fitch and Emanuel Margoliash (distance methods)Li et al. (SAMtools/bcftools, 2009); McKenna et al. (GATK, 2010)
LoạiComputational inference methodComputational genomics pipeline
Công trình gốcFelsenstein, J. (2004). Inferring Phylogenies. Sinauer Associates. ISBN: 978-0878931774McKenna, 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 ↗
Tên gọi khácmolecular phylogenetics, phylogenetic inference, evolutionary tree reconstruction, phylogenomicsSNP calling, genotyping from sequencing, mutation detection, variant detection
Liên quan56
Tóm tắtPhylogenetic analysis reconstructs the evolutionary history of organisms, genes, or proteins by comparing molecular sequence data and estimating the branching tree that best explains observed similarities and differences. Rooted in the work of Felsenstein and colleagues from the 1960s onward, it is a cornerstone technique in evolutionary biology, microbiology, epidemiology, and comparative genomics, supporting tasks from tracing viral outbreak origins to classifying novel species.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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