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- W2025202959 abstract "•Short tandem repeat (STR) variation is understudied but may make a major contribution to heritability. •STR variation likely engages in epistatic interactions with other loci. •Association of STR genotype with phenotype poses unique challenges. •Assessment of somatic STR variation may hold promise as a covariate in future GWA studies. Short tandem repeat (STR) variation has been proposed as a major explanatory factor in the heritability of complex traits in humans and model organisms. However, we still struggle to incorporate STR variation into genotype–phenotype maps. We review here the promise of STRs in contributing to complex trait heritability and highlight the challenges that STRs pose due to their repetitive nature. We argue that STR variants are more likely than single-nucleotide variants to have epistatic interactions, reiterate the need for targeted assays to genotype STRs accurately, and call for more appropriate statistical methods in detecting STR–phenotype associations. Lastly, we suggest that somatic STR variation within individuals may serve as a read-out of disease susceptibility, and is thus potentially a valuable covariate for future association studies. Short tandem repeat (STR) variation has been proposed as a major explanatory factor in the heritability of complex traits in humans and model organisms. However, we still struggle to incorporate STR variation into genotype–phenotype maps. We review here the promise of STRs in contributing to complex trait heritability and highlight the challenges that STRs pose due to their repetitive nature. We argue that STR variants are more likely than single-nucleotide variants to have epistatic interactions, reiterate the need for targeted assays to genotype STRs accurately, and call for more appropriate statistical methods in detecting STR–phenotype associations. Lastly, we suggest that somatic STR variation within individuals may serve as a read-out of disease susceptibility, and is thus potentially a valuable covariate for future association studies. hybrid incompatibilities observed when crossing two close species or divergent strains of a species with one another. The incompatibility is caused by the cosegregation of non-parental allele combinations and results in a dysfunctional genetic interaction (negative epistasis). complex diseases or traits are phenotypic characters thought to be affected by multiple genetic and environmental factors. non-reciprocal interactions of non-allelic gene variants, for instance as a result of functional interdependence between gene products in a protein complex or metabolic pathway. a mode of disease inheritance characterized by progressively earlier ages of disease onset as generations progress. Generally caused by the gradual expansion of STRs. a set of methods by which each of a large number of genetic variants genome-wide is tested for statistical associations with a phenotype. Often referred to in the context of genome-wide association studies (GWAS). the fraction of variation in a phenotype across a population that can be attributed to genetic differences. somatic variation of STRs (microsatellites) associated with phenotypic changes such as cancer, often due to mutations in DNA repair genes. a repetitive nucleotide sequence that consists of many copies of a short sequence in tandem, for example, CAGCAGCAGCAG. STRs are frequently known as microsatellites. a variant that consists of a change at a single nucleotide position. Common SNVs are sometimes called single-nucleotide polymorphisms (SNPs). genetic variation between somatic cells or tissues of an organism, which is generally not inherited by the offspring (which inherit instead germline variation). Generally arises from mutations in specific cell lineages after early development." @default.
- W2025202959 created "2016-06-24" @default.
- W2025202959 creator A5014875888 @default.
- W2025202959 creator A5049813467 @default.
- W2025202959 creator A5050779824 @default.
- W2025202959 date "2014-11-01" @default.
- W2025202959 modified "2023-09-25" @default.
- W2025202959 title "The overdue promise of short tandem repeat variation for heritability" @default.
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