Fishing for Function in the Human Gene Pool

Trends Genet. 2016 Jul;32(7):392-394. doi: 10.1016/j.tig.2016.05.002. Epub 2016 May 21.


Identification and characterization of causal non-coding variants in human genomes is challenging and requires substantial experimental resources. A new study by Tehranchi et al. describes a cost-effective approach for accurate mapping of molecular quantitative trait loci (QTLs) from pooled samples, a powerful way to link disease-associated changes to molecular functions.

Keywords: GWAS; QTL; cis-regulation; non-coding DNA.

Publication types

  • Review
  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Comment

MeSH terms

  • Chromosome Mapping
  • Gene Pool
  • Genetic Diseases, Inborn / genetics*
  • Genetic Variation
  • Genome, Human*
  • Humans
  • Polymorphism, Single Nucleotide / genetics
  • Quantitative Trait Loci / genetics*
  • Regulatory Sequences, Nucleic Acid / genetics*