Fine-mapping

Article summary

Fine-mapping is a set of methods in genetics used to identify the genetic variant or variants, often single-nucleotide polymorphisms (SNPs), most likely to explain an observed association between a genetic locus and a phenotype. It is commonly used during genetic association studies, including quantitative trait locus (QTL) analyses and genome-wide association studies (GWAS). In QTL analysis, regions of the genome are tested for association with variation in a quantitative trait. Many QTL studies measure molecular traits, such as gene expression, chromatin accessibility, splicing or protein abundance, and are therefore often described as molecular QTL studies. One example is an expression quantitative trait locus (eQTL), in which genetic variants at a locus are associated with differences in gene expression. This could for instance occur if the variant falls in the promoter of the gene, thereby affecting binding of a transcription factor which regulates gene expression. On the other hand, in GWAS, genetic variants across the genome are tested for association with traits or diseases, often organism-level phenotypes. In both QTL studies and GWAS, an association signal often does not identify a single causal variant in a locus. This is due to a phenomenon called genetic linkage, where alleles close together on a chromosome are often inherited together during meiosis.…

Key claims

No claims recorded.

Discussion questions

1. Summarise the article in your own words. Which single claim would you verify first, and why?
2. Which claim in this article is most likely to be revised as the sources update? How would you check its current status?
3. If two sources disagreed about one of these facts, what would you need in order to trust one over the other?

Bibliography

No sources recorded.