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Pemanggilan Varian Berbasis Jaringan×Panggilan Varian×
BidangBioinformatikaBioinformatika
KeluargaProcess / pipelineProcess / pipeline
Tahun asal2017–20182009–2010 (modern high-throughput era)
PencetusErik Garrison, Paten lab (UCSC); Hannes Eggertsson, deCODE GeneticsLi et al. (SAMtools/bcftools, 2009); McKenna et al. (GATK, 2010)
TipeComputational genomics pipelineComputational genomics pipeline
Sumber perintisGarrison, 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 ↗
Aliasgraph-genome variant calling, variation graph genotyping, vg-based variant calling, pangenome variant callingSNP calling, genotyping from sequencing, mutation detection, variant detection
Terkait66
RingkasanNetwork-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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ScholarGateBandingkan metode: Network-based variant calling · Variant Calling. Diakses 2026-06-15 dari https://scholargate.app/id/compare