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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2022 | 1 |
2023 | 5 |
2024 | 2 |
Search Results
7 results
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Page 1
Will variants of uncertain significance still exist in 2030?
Am J Hum Genet. 2024 Jan 4;111(1):5-10. doi: 10.1016/j.ajhg.2023.11.005. Epub 2023 Dec 11.
Am J Hum Genet. 2024.
PMID: 38086381
Review.
The Impact of Genomic Variation on Function (IGVF) Consortium.
IGVF Consortium.
IGVF Consortium.
ArXiv [Preprint]. 2023 Jul 24:arXiv:2307.13708v1.
ArXiv. 2023.
PMID: 37547663
Free PMC article.
Preprint.
Item in Clipboard
Guidelines for releasing a variant effect predictor.
Livesey BJ, Badonyi M, Dias M, Frazer J, Kumar S, Lindorff-Larsen K, McCandlish DM, Orenbuch R, Shearer CA, Muffley L, Foreman J, Glazer AM, Lehner B, Marks DS, Roth FP, Rubin AF, Starita LM, Marsh JA.
Livesey BJ, et al.
ArXiv [Preprint]. 2024 Apr 16:arXiv:2404.10807v1.
ArXiv. 2024.
PMID: 38699161
Free PMC article.
Preprint.
Item in Clipboard
Integrating deep mutational scanning and low-throughput mutagenesis data to predict the impact of amino acid variants.
Fu Y, Bedő J, Papenfuss AT, Rubin AF.
Fu Y, et al.
Gigascience. 2022 Dec 28;12:giad073. doi: 10.1093/gigascience/giad073. Epub 2023 Sep 18.
Gigascience. 2022.
PMID: 37721410
Free PMC article.
Item in Clipboard
Minimum information and guidelines for reporting a Multiplexed Assay of Variant Effect.
Claussnitzer M, Parikh VN, Wagner AH, Arbesfeld JA, Bult CJ, Firth HV, Muffley LA, Nguyen Ba AN, Riehle K, Roth FP, Tabet D, Bolognesi B, Glazer AM, Rubin AF.
Claussnitzer M, et al.
ArXiv [Preprint]. 2023 Jun 26:arXiv:2306.15113v1.
ArXiv. 2023.
PMID: 37426450
Free PMC article.
Updated.
Preprint.
Item in Clipboard
Pacybara: Accurate long-read sequencing for barcoded mutagenized allelic libraries.
Weile J, Ferra G, Boyle G, Pendyala S, Amorosi C, Yeh CL, Cote AG, Kishore N, Tabet D, van Loggerenberg W, Rayhan A, Fowler DM, Dunham MJ, Roth FP.
Weile J, et al.
bioRxiv [Preprint]. 2023 Dec 7:2023.02.22.529427. doi: 10.1101/2023.02.22.529427.
bioRxiv. 2023.
PMID: 36865234
Free PMC article.
Updated.
Preprint.
Item in Clipboard
Assigning credit where it's due: An information content score to capture the clinical value of Multiplexed Assays of Variant Effect.
Ranola JMO, Horton C, Pesaran T, Fayer S, Starita LM, Shirts BH.
Ranola JMO, et al.
bioRxiv [Preprint]. 2023 Oct 20:2023.10.20.562794. doi: 10.1101/2023.10.20.562794.
bioRxiv. 2023.
PMID: 37905042
Free PMC article.
Preprint.
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