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Panggilan Varian Berasaskan Rangkaian — Penjujukan Genom Graf

Panggilan varian berasaskan rangkaian (graf-genom) menggantikan genom rujukan linear tunggal konvensional dengan graf variasi — satu rangkaian di mana nod mewakili segmen jujukan dan tepi mewakili laluan alternatif yang diketahui melalui genom. Bacaan dipetakan pada graf ini, membolehkan pengesanan SNP, indel, dan varian struktur dengan bias rujukan yang jauh lebih rendah berbanding saluran paip rujukan linear. Alat utama termasuk Variation Graph Toolkit (vg) dan Graphtyper.

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Sumber

  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

Cara memetik halaman ini

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

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ScholarGateNetwork-based variant calling (Network-based (Graph-genome) Variant Calling). Dicapai 2026-06-15 daripada https://scholargate.app/ms/bioinformatics/network-based-variant-calling · Set data: https://doi.org/10.5281/zenodo.20539026