Vertaile menetelmiä

	Verkkoihin perustuva varianttien tunnistus	Sekvenssien kohdistus
Tieteenala	Bioinformatiikka	Bioinformatiikka
Menetelmäperhe	Process / pipeline	Process / pipeline
Syntyvuosi	2017–2018	1970 (global alignment); 1981 (local alignment)
Kehittäjä	Erik Garrison, Paten lab (UCSC); Hannes Eggertsson, deCODE Genetics	Saul B. Needleman & Christian D. Wunsch (global); Temple F. Smith & Michael S. Waterman (local)
Tyyppi	Computational genomics pipeline	Computational sequence analysis technique
Alkuperäislähde	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.	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.
Rinnakkaisnimet	graph-genome variant calling, variation graph genotyping, vg-based variant calling, pangenome variant calling	pairwise alignment, multiple sequence alignment, MSA, sequence comparison
Liittyvät	6	6
Tiivistelmä	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.