Process / pipelineBioinformatics / omics

Mrežno pozivanje varijanti — Genotipizacija na grafu genoma

Mrežno (graf-genomsko) pozivanje varijanti zamjenjuje uobičajeni pojedinačni linearni referentni genom grafom varijanti — mrežom u kojoj čvorovi predstavljaju segmente sekvence, a bridovi poznate alternativne putove kroz genom. Očitavanja se mapiraju na ovaj graf, omogućujući detekciju SNP-ova, indela i strukturnih varijanti sa znatno nižom referentnom pristranošću nego kod cjevovoda s linearnom referencom. Ključni alati uključuju Variation Graph Toolkit (vg) i Graphtyper.

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Izvori

  1. Garrison, 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: 10.1038/nbt.4227
  2. Eggertsson, H. P., Jonsson, H., Kristmundsdottir, S., Hjartarson, E., Kehr, B., Masson, G., Zink, F., Hjorleifsson, K. E., Jonasdottir, A., Jonasdottir, A., Jonsdottir, I., Gudbjartsson, D. F., Melsted, P., Stefansson, K., & Halldorsson, B. V. (2017). Graphtyper enables population-scale genotyping using pangenome graphs. Nature Genetics, 49(11), 1654–1660. DOI: 10.1038/ng.3964

Kako citirati ovu stranicu

ScholarGate. (2026, June 3). Network-based (Graph-genome) Variant Calling. ScholarGate. https://scholargate.app/hr/bioinformatics/network-based-variant-calling

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ScholarGateNetwork-based variant calling (Network-based (Graph-genome) Variant Calling). Preuzeto 2026-06-15 s https://scholargate.app/hr/bioinformatics/network-based-variant-calling · Skup podataka: https://doi.org/10.5281/zenodo.20539026