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Whole genome sequencing refines stratification and therapy of patients with clear cell renal cell carcinoma.
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.
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Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project.
Seaby EG, Thomas NS, Webb A, Brittain H, Taylor Tavares AL; Genomics England Consortium; Baralle D, Rehm HL, O'Donnell-Luria A, Ennis S.
Seaby EG, et al.
Hum Genet. 2023 Mar;142(3):351-362. doi: 10.1007/s00439-022-02509-x. Epub 2022 Dec 7.
Hum Genet. 2023.
PMID: 36477409
Free PMC article.
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