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Mrežni pristup pozivanju varijanti×Позивање варијанти×
OblastBioinformatikaBioinformatika
PorodicaProcess / pipelineProcess / pipeline
Godina nastanka2017–20182009–2010 (modern high-throughput era)
TvoracErik Garrison, Paten lab (UCSC); Hannes Eggertsson, deCODE GeneticsLi et al. (SAMtools/bcftools, 2009); McKenna et al. (GATK, 2010)
TipComputational genomics pipelineComputational genomics pipeline
Temeljni izvorGarrison, 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 ↗
Drugi nazivigraph-genome variant calling, variation graph genotyping, vg-based variant calling, pangenome variant callingSNP calling, genotyping from sequencing, mutation detection, variant detection
Srodne66
SažetakNetwork-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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ScholarGateUporedite metode: Network-based variant calling · Variant Calling. Preuzeto 2026-06-15 sa https://scholargate.app/sr/compare