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Page 1
Origins and impact of extrachromosomal DNA.
Bailey C, Pich O, Thol K, Watkins TBK, Luebeck J, Rowan A, Stavrou G, Weiser NE, Dameracharla B, Bentham R, Lu WT, Kittel J, Yang SYC, Howitt BE, Sharma N, Litovchenko M, Salgado R, Hung KL, Cornish AJ, Moore DA, Houlston RS, Bafna V, Chang HY, Nik-Zainal S, Kanu N, McGranahan N; Genomics England Consortium; Flanagan AM, Mischel PS, Jamal-Hanjani M, Swanton C. Bailey C, et al. Nature. 2024 Nov;635(8037):193-200. doi: 10.1038/s41586-024-08107-3. Epub 2024 Nov 6. Nature. 2024. PMID: 39506150 Free PMC article.
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.
ImmuneLENS characterizes systemic immune dysregulation in aging and cancer.
Bentham R, Jones TP, Black JRM, Martinez-Ruiz C, Dietzen M, Litovchenko M, Thol K, Watkins TBK, Bailey C, Pich O, Zhang Z, Van Loo P; TRACERx Consortium; Genomics England Consortium; Swanton C, McGranahan N. Bentham R, et al. Nat Genet. 2025 Mar;57(3):694-705. doi: 10.1038/s41588-025-02086-5. Epub 2025 Feb 18. Nat Genet. 2025. PMID: 39966644 Free PMC article.
The impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney disease.
Elhassan EAE, Collins KE, Heneghan S, Gilbert E, Yang H, Senum SR, Schauer RS, Elbarougy DE, Madden SF, Murray SL, Sadeghi-Alavijeh O, Carmichael J, Gale D, Osman SM, Kennedy C, Griffin MD, Casserly L, Moloney B, O'Hara P, Mallawaarachchi A, Ciurli F; Genomics England Consortium; Graziano C, Wolff CA, Schönauer R, LaManna G, Durand A, Limou S, Halbritter J, Capelli I, McCann E, Harris PC, Cavalleri GL, Benson KA, Conlon PJ. Elhassan EAE, et al. J Nephrol. 2025 Jan 30. doi: 10.1007/s40620-025-02211-x. Online ahead of print. J Nephrol. 2025. PMID: 39883360
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.