So sánh phương pháp

	Variant Calling	Epigenome-wide association study
Lĩnh vực	Tin sinh học	Tin sinh học
Họ	Process / pipeline	Process / pipeline
Năm ra đời	2009–2010 (modern high-throughput era)	2008–2011 (term and framework established c. 2011)
Người khởi xướng	Li et al. (SAMtools/bcftools, 2009); McKenna et al. (GATK, 2010)	Rakyan, Down, Balding & Beck (conceptual framework); Illumina arrays enabled large-scale application
Loại	Computational genomics pipeline	Population-scale epigenomic association study
Công trình gốc	McKenna, 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.	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.
Tên gọi khác	SNP calling, genotyping from sequencing, mutation detection, variant detection	EWAS, methylome-wide association study, epigenetic association study, DNA methylation association study
Liên quan	6	5
Tóm tắt	Variant 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.