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Whole genome sequencing refines stratification and therapy of patients with clear cell renal cell carcinoma.
Culliford R, Lawrence SED, Mills C, Tippu Z, Chubb D, Cornish AJ, Browning L, Kinnersley B, Bentham R, Sud A, Pallikonda H; Renal Cancer Genomics England Consortium; Frangou A, Gruber AJ, Litchfield K, Wedge D, Larkin J, Turajlic S, Houlston RS. Culliford R, et al. Nat Commun. 2024 Jul 15;15(1):5935. doi: 10.1038/s41467-024-49692-1. Nat Commun. 2024. PMID: 39009593 Free PMC article.
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. 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.