Interpreting genetic risks

Interpreting and comparing risks in the presence of competing events.

1Center for Medical Biometry and Medical Informatics, Institute for Medical Biometry and Statistics, Medical Center University of Freiburg, Germany; 2Mahidol-Oxford Tropical Medicine Research Unit, Faculty of Tropical Medicine, Mahidol University, Bangkok, Thailand; 3Centre for Tropical Medicine, Nuffield Department of Clinical Medicine, University of Oxford, Oxford, UK; 4Department of Medical ...

Non-disclosure of genetic risks

In ABC v. St Georges Healthcare NHS Trust, the High Court of England and Wales rejected the argument that doctors have a legal duty to disclose actionable genetic risks to a patient's relatives. This article reconsiders the concept of a duty to disclose actionable genetic risks in the context of widening perceptions of legal harm and developing professional and public perceptions of correspondi...

Ultrasound plaque characterisation, genetic markers and risks.

The arterial wall changes detected by ultrasound are the end result of all risk factors (exogenous, endogenous and genetic) known and unknown and are better predictors of risk than any combination of conventional risk factors. However, ultrasound cannot be used in people younger than 45 because characteristic changes occur after this age. Nevertheless, it can be used in individuals over 45 to i...

Interpreting noncoding genetic variation in complex traits and human disease

Association studies provide genome-wide information about the genetic basis of complex disease, but medical research has focused primarily on protein-coding variants, owing to the difficulty of interpreting noncoding mutations. This picture has changed with advances in the systematic annotation of functional noncoding elements. Evolutionary conservation, functional genomics, chromatin state, se...

Interpreting principal components analyses of spatial population genetic variation