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변이 호출×전장 후성유전체 연관 분석 (EWAS)×
분야생물정보학생물정보학
계열Process / pipelineProcess / pipeline
기원 연도2009–2010 (modern high-throughput era)2008–2011 (term and framework established c. 2011)
창시자Li et al. (SAMtools/bcftools, 2009); McKenna et al. (GATK, 2010)Rakyan, Down, Balding & Beck (conceptual framework); Illumina arrays enabled large-scale application
유형Computational genomics pipelinePopulation-scale epigenomic association study
원전McKenna, A., Hanna, M., Banks, E., Sivachenko, A., Cibulskis, K., Kernytsky, A., ... & DePristo, M. A. (2010). The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data. Genome Research, 20(9), 1297–1303. DOI ↗Rakyan, V. K., Down, T. A., Balding, D. J., & Beck, S. (2011). Epigenome-wide association studies for common human diseases. Nature Reviews Genetics, 12(8), 529–541. DOI ↗
별칭SNP calling, genotyping from sequencing, mutation detection, variant detectionEWAS, methylome-wide association study, epigenetic association study, DNA methylation association study
관련65
요약Variant calling is the computational process of identifying positions in a sequenced genome that differ from a reference sequence — including single nucleotide polymorphisms (SNPs), small insertions and deletions (indels), and structural variants. It transforms aligned sequencing reads into an interpretable catalogue of genetic differences, forming the foundation for population genetics, disease-gene discovery, and clinical genomics applications.An epigenome-wide association study (EWAS) is a hypothesis-free, genome-scale method that systematically tests whether epigenetic marks — predominantly CpG-site DNA methylation — differ between individuals with and without a trait, disease, or exposure. By scanning hundreds of thousands of genomic positions simultaneously, EWAS identifies loci where the epigenome is reproducibly associated with a phenotype, offering a layer of biological regulation that classical GWAS does not capture.
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ScholarGate방법 비교: Variant Calling · Epigenome-wide association study. 2026-06-18에 다음에서 검색함: https://scholargate.app/ko/compare