Genomweite

Genomweite, a term used in German-language genomics, describes analyses conducted across the entire genome; in English, the corresponding term is genome-wide. The genome-wide approach underpins methods such as genome-wide association studies (GWAS), which test hundreds of thousands to millions of single-nucleotide polymorphisms (SNPs) for association with a trait or disease using large cohorts. Data are generated by SNP genotyping arrays or whole-genome sequencing, often augmented by imputation to infer untyped variants. Researchers apply stringent multiple-testing corrections, typically a genome-wide significance threshold around 5×10^-8, and adjust for population structure and covariates.

In addition to genetic variation, genome-wide analyses extend to other molecular layers, such as methylation (epigenome-wide association studies, EWAS) and expression (transcriptome-wide studies). Genome-wide approaches enable discovery of novel loci with modest effects and may reveal polygenic architectures, including many variants with small effects acting together. However, they require large sample sizes, careful control of bias, and independent replication to validate findings. Limitations include residual confounding by ancestry, imputation inaccuracies for rare variants, and interpretational challenges for noncoding regions.

The term genomweite is commonly used in German-language literature to refer to genome-wide analyses; in English, the corresponding term is genome-wide. Overall, genome-wide analyses are foundational in modern genetics, enabling comprehensive surveys of the genome to understand complex traits and diseases.