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A gene pathogenicity tool 'GenePy' identifies missed biallelic diagnoses in the 100,000 Genomes Project.
Seaby EG, Leggatt G, Cheng G, Thomas NS, Ashton JJ, Stafford I; Genomics England Consortium; Baralle D, Rehm HL, O'Donnell-Luria A, Ennis S. Seaby EG, et al. Among authors: ennis s. medRxiv [Preprint]. 2023 Mar 30:2023.03.21.23287545. doi: 10.1101/2023.03.21.23287545. medRxiv. 2023. Update in: Genet Med. 2024 Apr;26(4):101073. doi: 10.1016/j.gim.2024.101073 PMID: 37034701 Free PMC article. Updated. Preprint.
A panel-agnostic strategy 'HiPPo' improves diagnostic efficiency in the UK Genome Medicine Service.
Seaby EG, Thomas NS, Hunt D, Baralle D, Rehm HL, O'Donnell-Luria A, Ennis S. Seaby EG, et al. Among authors: ennis s. medRxiv [Preprint]. 2023 Feb 1:2023.01.31.23285025. doi: 10.1101/2023.01.31.23285025. medRxiv. 2023. Update in: Healthcare (Basel). 2023 Dec 15;11(24):3179. doi: 10.3390/healthcare11243179 PMID: 36778464 Free PMC article. Updated. Preprint.
461 results