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Informing variant assessment using structured evidence from prior classifications (PS1, PM5, and PVS1 sequence variant interpretation criteria).
Genet Med. 2023 Jan;25(1):16-26. doi: 10.1016/j.gim.2022.09.009. Epub 2022 Oct 28.
Genet Med. 2023.
PMID: 36305854
Free PMC article.
Joint genotypic and phenotypic outcome modeling improves base editing variant effect quantification.
Ryu J, Barkal S, Yu T, Jankowiak M, Zhou Y, Francoeur M, Phan QV, Li Z, Tognon M, Brown L, Love MI, Bhat V, Lettre G, Ascher DB, Cassa CA, Sherwood RI, Pinello L.
Ryu J, et al. Among authors: bhat v.
Nat Genet. 2024 Apr 24. doi: 10.1038/s41588-024-01726-6. Online ahead of print.
Nat Genet. 2024.
PMID: 38658794
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