Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2015 Oct;25(10):1427-31.
doi: 10.1101/gr.190983.115.

Functional genomics bridges the gap between quantitative genetics and molecular biology

Tuuli Lappalainen  1
Affiliations

Functional genomics bridges the gap between quantitative genetics and molecular biology

Tuuli Lappalainen. Genome Res. 2015 Oct.

Abstract

Deep characterization of molecular function of genetic variants in the human genome is becoming increasingly important for understanding genetic associations to disease and for learning to read the regulatory code of the genome. In this paper, I discuss how recent advances in both quantitative genetics and molecular biology have contributed to understanding functional effects of genetic variants, lessons learned from eQTL studies, and future challenges in this field.

PubMed Disclaimer

Figures

Figure 1.
Figure 1.
Intersections of fields analyzing genetic variation, molecular biology, and medicine. GWAS and EWAS stand for genome-wide and epigenome-wide association studies, respectively, and eQTL is an abbreviation of expression quantitative trait loci.
See this image and copyright information in PMC

References

    1. The 1000 Genomes Project Consortium. 2012. An integrated map of genetic variation from 1,092 human genomes. Nature 491: 56–65. - PMC - PubMed
    1. Albert FW, Kruglyak L. 2015. The role of regulatory variation in complex traits and disease. Nat Rev Genet 16: 197–212. - PubMed
    1. Arnold CD, Gerlach D, Stelzer C, Boryn LM, Rath M, Stark A. 2013. Genome-wide quantitative enhancer activity maps identified by STARR-seq. Science 339: 1074–1077. - PubMed
    1. Bamshad MJ, Ng SB, Bigham AW, Tabor HK, Emond MJ, Nickerson DA, Shendure J. 2011. Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet 12: 745–755. - PubMed
    1. Battle A, Mostafavi S, Zhu X, Potash JB, Weissman MM, McCormick C, Haudenschild CD, Beckman KB, Shi J, Mei R, et al. 2014. Characterizing the genetic basis of transcriptome diversity through RNA-sequencing of 922 individuals. Genome Res 24: 14–24. - PMC - PubMed

Publication types

LinkOut - more resources