Volume 14 Issue 7, July 2013

Familial searching in forensic genetic testing is raising concerns in the United States.

Argonaute proteins are vital components of small-RNA-guided modes of gene regulation. Recent studies have provided important details about classical modes of Argonaute function, such as their structure and loading with small RNAs, and have also revealed unexpected roles in other cellular functions.

Next-generation sequencing is now poised for the discovery of genetic variants involved in common and rare diseases. Here, the authors present considerations for the workflow of these studies in order to identify true associations of disease and mutation.

Heterosis, also known as hybrid vigour, is an intriguing phenomenon that has particularly important implications for agriculture. The molecular basis of this vigour is poorly understood, but progress is being made through the use of genomic, transcriptomic and epigenomic approaches.

Modern genomic studies are revealing widespread associations between single genetic variants and multiple distinct traits, including diseases. This Review discusses the biological underpinnings of such pleiotropy and the available bioinformatic tools for the detection and characterization of these effects, as well as the implications for understanding human disease.

Recent advances have allowed the genomic characterization of the extent and regulation of alternative polyadenylation. Here, the biological processes with which alternative polyadenylation has been associated, the mechanisms of its regulation and its involvement in disease are discussed.

The data from genome-wide association studies can be applied to genotype data to predict the phenotype of a complex trait. Here the authors discuss the potential pitfalls of such analyses and the inherent limitations of the method.