Lacaze, P;
Manchanda, R;
Green, RC;
(2023)
Prioritizing the detection of rare pathogenic variants in population screening.
Nature Reviews Genetics
, 24
pp. 205-206.
10.1038/s41576-022-00571-9.
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Abstract
Population genomic screening to detect carriers of rare monogenic variants for medically actionable conditions is supported by substantial evidence of clinical utility and cost effectiveness. Much less evidence supports screening by polygenic risk scores, which do not detect rare variants. Using only polygenic scores in population screening initiatives, while ignoring the detection of higher-risk rare monogenic variants, is ill-advised.
| Type: | Article |
|---|---|
| Title: | Prioritizing the detection of rare pathogenic variants in population screening |
| Location: | England |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1038/s41576-022-00571-9 |
| Publisher version: | https://doi.org/10.1038/s41576-022-00571-9 |
| Language: | English |
| Additional information: | This version is the author accepted manuscript. For information on re-use, please refer to the publisher's terms and conditions. |
| Keywords: | Diseases, Population genetics |
| 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 > Inst of Clinical Trials and Methodology |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10163545 |
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