Process / pipelineBioinformatics / omics

Mrežni pristup pozivanju varijanti — Genotipizacija grafičkog genoma

Mrežno (grafičko-genomsko) pozivanje varijanti zamenjuje konvencionalni linearni referentni genom grafom varijanti — mrežom u kojoj čvorovi predstavljaju segmente sekvence, a ivice poznate alternativne puteve kroz genom. Očitavanja se mapiraju na ovaj graf, omogućavajući detekciju SNP-ova, indela i strukturnih varijanti sa znatno nižom referentnom pristrasnošću nego kod linearnih referentnih pajplajna. 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/sr/bioinformatics/network-based-variant-calling

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