Порівняння методів

	Виявлення варіантів	Повногеномне асоціативне дослідження (GWAS)
Галузь	Біоінформатика	Біоінформатика
Родина	Process / pipeline	Process / pipeline
Рік появи	2009–2010 (modern high-throughput era)	2005–2007
Автор методу	Li et al. (SAMtools/bcftools, 2009); McKenna et al. (GATK, 2010)	Klein et al. (age-related macular degeneration GWAS, 2005); landmark scale: Wellcome Trust Case Control Consortium (2007)
Тип	Computational genomics pipeline	Observational genomic association study
Основоположне джерело	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.	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.
Інші назви	SNP calling, genotyping from sequencing, mutation detection, variant detection	GWAS, genome-wide association analysis, whole-genome association study, WGAS
Пов'язані	6	6
Підсумок	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.	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.