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계열Process / pipelineProcess / pipeline
기원 연도2017–20182009–2010 (modern high-throughput era)
창시자Erik Garrison, Paten lab (UCSC); Hannes Eggertsson, deCODE GeneticsLi et al. (SAMtools/bcftools, 2009); McKenna et al. (GATK, 2010)
유형Computational genomics pipelineComputational genomics pipeline
원전Garrison, E., Sirén, J., Novak, A. M., Hickey, G., Eizenga, J. M., Dawson, E. T., Jones, W., Garg, S., Markello, C., Lin, M. F., Paten, B., & Durbin, R. (2018). Variation graph toolkit improves read mapping by representing genetic variation in the reference. Nature Biotechnology, 36(9), 875–879. 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 ↗
별칭graph-genome variant calling, variation graph genotyping, vg-based variant calling, pangenome variant callingSNP calling, genotyping from sequencing, mutation detection, variant detection
관련66
요약Network-based (graph-genome) variant calling replaces the conventional single linear reference genome with a variation graph — a network in which nodes represent sequence segments and edges represent known alternative paths through the genome. Reads are mapped onto this graph, enabling detection of SNPs, indels, and structural variants with substantially lower reference bias than linear-reference pipelines. Key tools include the Variation Graph Toolkit (vg) and Graphtyper.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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ScholarGate방법 비교: Network-based variant calling · Variant Calling. 2026-06-15에 다음에서 검색함: https://scholargate.app/ko/compare