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| Мрежово базирано призоваване на варианти× | Подравняване на последователности× | |
|---|---|---|
| Област | Биоинформатика | Биоинформатика |
| Семейство | Process / pipeline | Process / pipeline |
| Година на възникване≠ | 2017–2018 | 1970 (global alignment); 1981 (local alignment) |
| Създател≠ | Erik Garrison, Paten lab (UCSC); Hannes Eggertsson, deCODE Genetics | Saul B. Needleman & Christian D. Wunsch (global); Temple F. Smith & Michael S. Waterman (local) |
| Тип≠ | Computational genomics pipeline | Computational sequence analysis technique |
| Основополагащ източник≠ | 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 ↗ | Needleman, S. B., & Wunsch, C. D. (1970). A general method applicable to the search for similarities in the amino acid sequence of two proteins. Journal of Molecular Biology, 48(3), 443–453. DOI ↗ |
| Други названия | graph-genome variant calling, variation graph genotyping, vg-based variant calling, pangenome variant calling | pairwise alignment, multiple sequence alignment, MSA, sequence comparison |
| Свързани | 6 | 6 |
| Резюме≠ | Network-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. | Sequence alignment is a foundational bioinformatics technique that arranges two or more DNA, RNA, or protein sequences to reveal regions of similarity, infer evolutionary relationships, identify functional domains, and map sequencing reads to reference genomes. It underpins virtually every downstream genomic analysis, from variant calling and gene expression quantification to phylogenetics and structural annotation. |
| ScholarGateНабор от данни ↗ |
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