Volume 15 Issue 11, November 2014

Next-generation sequencing methods can be used to examine features of chromatin biology, although the outputs of these methods can be subject to various potential biases. This Review describes the ways in which biases can be introduced to such experiments and outlines methods to detect and mitigate their effect.

Genome-wide association studies have been extensively used to uncover genetic variants that independently influence complex traits, including diseases. This Review describes advances in computational approaches to detect interactions (epistasis) between genetic variants underlying complex traits, including the different promises and pitfalls of the methods. Additionally, the authors summarize current empirical evidence on how pervasive epistasis is in complex traits and its wider biological implications.

This Review provides insights obtained from comparative transcriptomic studies of mammalian species. The dynamics of gene expression evolution in coding and non-coding genes, as well as the regulatory basis of transcriptome evolution and future research avenues, are discussed.

This Review describes how whole-genome sequencing of pooled DNA from many individuals (Pool-seq) is an economical alternative to sequencing the genomes of individuals separately. The authors outline the strengths and pitfalls of Pool-seq, and provide example applications across diverse species and biological questions.

There are various measures to quantify the contribution of genetic variants to disease risk, but differing terminology and assumptions obfuscate their use and interpretation. In this Analysis, the authors consider and contrast six commonly used measures that assess disease risk of individual variants, and provide numerical examples in breast cancer, Crohn's disease, rheumatoid arthritis and schizophrenia.