Public health | Nature Reviews Genetics

Review Article | 29 May 2019

Carrier screening for recessive disorders

This Review discusses the current status of expanded carrier screening, including existing recommendations and limitations. The author reviews the framework that is needed for successful comprehensive carrier screening programmes for all autosomal recessive disorders in various populations.

Stylianos E. Antonarakis

Comment | 29 November 2018

The value of genetic testing for family health history of adopted persons

The lack of family health history experienced by most adopted persons can represent a marked disadvantage for these individuals. Genetic testing has the potential to reliably and usefully fill informational gaps, but considerable challenges need to be addressed to assemble an economic case for affordability.

Thomas May

Review Article | 05 June 2018

Using genetic data to strengthen causal inference in observational research

Various types of observational studies can provide statistical associations between factors, such as between an environmental exposure and a disease state. This Review discusses the various genetics-focused statistical methodologies that can move beyond mere associations to identify (or refute) various mechanisms of causality, with implications for responsibly managing risk factors in health care and the behavioural and social sciences.

Jean-Baptiste Pingault
, Paul F. O’Reilly
& Frank Dudbridge

Correspondence | 14 February 2018

Heritable contributions versus genetic architecture

Nicholas J. Timpson
, Celia M. T. Greenwood
& J. Brent Richards

Correspondence | 14 February 2018

Using partitioned heritability methods to explore genetic architecture

Luke M. Evans
& Matthew C. Keller

Review Article | 11 December 2017

Genetic architecture: the shape of the genetic contribution to human traits and disease

Genetic architecture describes the characteristics of genetic variation that are responsible for phenotypic variability. This Review discusses the types of genetic architecture that have been observed, how they can be measured and how genetic architecture informs the scientific and clinical goals of human genetics.

Nicholas J. Timpson
, Celia M. T. Greenwood
& J. Brent Richards

Research Highlight | 04 December 2017

Genomics in the time of cholera

Carolina Perdigoto

Review Article | 13 November 2017

Towards a genomics-informed, real-time, global pathogen surveillance system

Next-generation sequencing has the potential to support public health surveillance systems to improve the early detection of emerging infectious diseases. This Review delineates the role of genomics in rapid outbreak response and the challenges that need to be tackled for genomics-informed pathogen surveillance to become a global reality.