Lewis, C;
(2023)
Genomic testing for rare disease diagnosis—where are we now, and where should we be heading? The reflections of a behavioural scientist.
European Journal of Human Genetics
10.1038/s41431-023-01439-0.
(In press).
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Abstract
As I write this, it is a few weeks since we celebrated 70 years since the discovery of the structure DNA which was published by Watson and Crick in the journal Nature on April 25th 1953. Since then, there have been enormous strides that have taken place in the world of genomics, including the publication of the human genome back in 2001, and the awe-inspiring advancements in high-throughput DNA sequencing technologies which have revolutionised our ability to decipher the genome with unprecedented speed and accuracy. We live in a world today where a human genome can be sequenced, analysed and a diagnosis returned in a matter of hours [1], a feat which was unimaginable 70 years ago.
| Type: | Article |
|---|---|
| Title: | Genomic testing for rare disease diagnosis—where are we now, and where should we be heading? The reflections of a behavioural scientist |
| Location: | England |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1038/s41431-023-01439-0 |
| Publisher version: | https://doi.org/10.1038/s41431-023-01439-0 |
| Language: | English |
| Additional information: | © 2023 Springer Nature Limited. This article is licensed under a Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/). |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Population, Policy and Practice Dept |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10175254 |
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