Towards precision medicine

By Euan A. Ashley. Nature reviews genetics, 2016

661 citations recorded by the source corpus.

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

From Big Data to Precision Medicine (2019, positive): “Precision medicine can be succinctly defined as an approach to provide the right treatments to the right patients at the right time (7).”
Detection of long repeat expansions from PCR-free whole-genome sequence data (2016, methodology): “…repeats spanning hundreds to thousands of base pairs (Dürr et al. 1996; Gatchel and Zoghbi 2005; Kronquist et al. 2008; Gijselinck et al. 2016), so it has been assumed that short-read sequencing technologies may not be able to identify pathogenic repeat expansions (Loomis et al. 2013; Ashley 2016).”
Large-scale whole-genome sequencing of three diverse Asian populations in Singapore (2018, neutral): “The direct assessment of causal variants enabled by sequencing technologies has led to the convergence of population and clinical genetics.(8,9) Population genetic information has become the cornerstone of precision medicine, with wide applications in the diagnosis of Mendelian diseases,(10,11) opti”
The growing ubiquity of algorithms in society: implications, impacts and innovations (2018, background): “The hope of understanding ever-increasing complexities of human behaviour [98] has driven this set of developments.”