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네트워크 기반 변이 호출×전장 유전체 연관 분석 (GWAS)×
분야생물정보학생물정보학
계열Process / pipelineProcess / pipeline
기원 연도2017–20182005–2007
창시자Erik Garrison, Paten lab (UCSC); Hannes Eggertsson, deCODE GeneticsKlein et al. (age-related macular degeneration GWAS, 2005); landmark scale: Wellcome Trust Case Control Consortium (2007)
유형Computational genomics pipelineObservational genomic association study
원전Garrison, 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 ↗Wellcome Trust Case Control Consortium. (2007). Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature, 447(7145), 661–678. link ↗
별칭graph-genome variant calling, variation graph genotyping, vg-based variant calling, pangenome variant callingGWAS, genome-wide association analysis, whole-genome association study, WGAS
관련66
요약Network-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.A genome-wide association study (GWAS) systematically tests hundreds of thousands to millions of single-nucleotide polymorphisms (SNPs) across the human genome for statistical association with a trait or disease. By comparing allele frequencies between cases and controls — or by regressing SNP genotypes on a quantitative phenotype — GWAS identifies genomic loci that harbor common genetic variants contributing to complex traits. Since its large-scale debut in 2007, GWAS has catalogued thousands of robust disease–variant associations across virtually every common human condition.
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ScholarGate방법 비교: Network-based variant calling · Genome-wide association study. 2026-06-18에 다음에서 검색함: https://scholargate.app/ko/compare