Volume 12 Issue 9, September 2011

This Review describes the successful efforts of modelling approaches that combine evolutionary theory, systems biology and molecular data to interpret past evolution and, crucially, to predict evolutionary processes at the molecular and network levels.

Next-generation sequencing has now been used to produce the first ancient hominin genome sequences and is also being used to sequence modern humans from many different populations. Together with SNP genotyping, these data are transforming views of human history.

Genome sequencing is providing a wealth of information about where and when transposons can integrate into host genomes. This Review integrates findings from eukaryotes and bacteria about patterns of transposon activity, host defence mechanisms and the developmental timing of transposition.

The recent surge in sequencing output has uncovered a wealth of genetic variation, but interpretation of these data remains a challenge. This Review discusses computational and experimental methods for estimating the deleteriousness and functional significance of genetic variants to better identify those that are potentially causal for disease.

The ways in which an RNA molecule folds to form structures can be crucial to its function, and so methods for studying RNA structures make an important contribution to understanding transcriptomes. Experimental approaches in this field are being advanced by coupling them to high-throughput sequencing.

Technological advances are driving rapid changes in prenatal screening: for example, the use of genome-wide molecular tests for diagnostic follow-up and the pending introduction of non-invasive testing. These advances raise difficult ethical questions about issues such as meaningful reproductive choice, equity of access and the proportionality of testing.