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Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases.
Weisschuh N, Mazzola P, Zuleger T, Schaeferhoff K, Kühlewein L, Kortüm F, Witt D, Liebmann A, Falb R, Pohl L, Reith M, Stühn LG, Bertrand M, Müller A, Casadei N, Kelemen O, Kelbsch C, Kernstock C, Richter P, Sadler F, Demidov G, Schütz L, Admard J, Sturm M, Grasshoff U, Tonagel F, Heinrich T, Nasser F, Wissinger B, Ossowski S, Kohl S, Riess O, Stingl K, Haack TB. Weisschuh N, et al. Among authors: demidov g. J Med Genet. 2024 Jan 19;61(2):186-195. doi: 10.1136/jmg-2023-109470. J Med Genet. 2024. PMID: 37734845 Free PMC article.
Author Correction: A deep learning system accurately classifies primary and metastatic cancers using passenger mutation patterns.
Jiao W, Atwal G, Polak P, Karlic R, Cuppen E; PCAWG Tumor Subtypes and Clinical Translation Working Group; Danyi A, de Ridder J, van Herpen C, Lolkema MP, Steeghs N, Getz G, Morris QD, Stein LD; PCAWG Consortium. Jiao W, et al. Nat Commun. 2022 Dec 8;13(1):7573. doi: 10.1038/s41467-022-32329-6. Nat Commun. 2022. PMID: 36481665 Free PMC article. No abstract available.
Author Correction: High-coverage whole-genome analysis of 1220 cancers reveals hundreds of genes deregulated by rearrangement-mediated cis-regulatory alterations.
Zhang Y, Chen F, Fonseca NA, He Y, Fujita M, Nakagawa H, Zhang Z, Brazma A; PCAWG Transcriptome Working Group; PCAWG Structural Variation Working Group; Creighton CJ; PCAWG Consortium. Zhang Y, et al. Nat Commun. 2022 Dec 8;13(1):7572. doi: 10.1038/s41467-022-32333-w. Nat Commun. 2022. PMID: 36481652 Free PMC article. No abstract available.
Enhanced epigenetic profiling of classical human monocytes reveals a specific signature of healthy aging in the DNA methylome.
Shchukina I, Bagaitkar J, Shpynov O, Loginicheva E, Porter S, Mogilenko DA, Wolin E, Collins P, Demidov G, Artomov M, Zaitsev K, Sidorov S, Camell C, Bambouskova M, Arthur L, Swain A, Panteleeva A, Dievskii A, Kurbatsky E, Tsurinov P, Chernyatchik R, Dixit VD, Jovanovic M, Stewart SA, Daly MJ, Dmitriev S, Oltz EM, Artyomov MN. Shchukina I, et al. Among authors: demidov g. Nat Aging. 2021 Jan;1(1):124-141. doi: 10.1038/s43587-020-00002-6. Epub 2020 Nov 23. Nat Aging. 2021. PMID: 34796338 Free PMC article.
Author Correction: Pan-cancer analysis of whole genomes.
ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium. ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium. Nature. 2023 Feb;614(7948):E39. doi: 10.1038/s41586-022-05598-w. Nature. 2023. PMID: 36697834 Free PMC article. No abstract available.
Author Correction: Inferring structural variant cancer cell fraction.
Cmero M, Yuan K, Ong CS, Schröder J; PCAWG Evolution and Heterogeneity Working Group; Corcoran NM, Papenfuss T, Hovens CM, Markowetz F, Macintyre G; PCAWG Consortium. Cmero M, et al. Nat Commun. 2022 Dec 8;13(1):7568. doi: 10.1038/s41467-022-32338-5. Nat Commun. 2022. PMID: 36481724 Free PMC article. No abstract available.
Author Correction: Integrative pathway enrichment analysis of multivariate omics data.
Paczkowska M, Barenboim J, Sintupisut N, Fox NS, Zhu H, Abd-Rabbo D, Mee MW, Boutros PC; PCAWG Drivers and Functional Interpretation Working Group; Reimand J; PCAWG Consortium. Paczkowska M, et al. Nat Commun. 2022 Dec 8;13(1):7570. doi: 10.1038/s41467-022-32342-9. Nat Commun. 2022. PMID: 36481658 Free PMC article. No abstract available.
110 results