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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. Among authors: roth fp. Bioinformatics. 2024 Mar 29;40(4):btae182. doi: 10.1093/bioinformatics/btae182. Bioinformatics. 2024. PMID: 38569896 Free PMC article.
Author Correction: Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.
Corominas R, Yang X, Lin GN, Kang S, Shen Y, Ghamsari L, Broly M, Rodriguez M, Tam S, Wanamaker SA, Fan C, Yi S, Tasan M, Lemmens I, Kuang X, Zhao N, Malhotra D, Michaelson JJ, Vacic V, Calderwood MA, Roth FP, Tavernier J, Horvath S, Salehi-Ashtiani K, Korkin D, Sebat J, Hill DE, Hao T, Vidal M, Iakoucheva LM. Corominas R, et al. Among authors: roth fp. Nat Commun. 2023 Feb 2;14(1):569. doi: 10.1038/s41467-023-36264-y. Nat Commun. 2023. PMID: 36732511 Free PMC article. No abstract available.
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. Among authors: roth fp. ArXiv [Preprint]. 2024 Apr 16:arXiv:2404.10807v1. ArXiv. 2024. PMID: 38699161 Free PMC article. Preprint.
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. Among authors: roth fp. Genome Biol. 2024 Apr 19;25(1):100. doi: 10.1186/s13059-024-03223-9. Genome Biol. 2024. PMID: 38641812 Free PMC article.
Pervasive mislocalization of pathogenic coding variants underlying human disorders.
Lacoste J, Haghighi M, Haider S, Lin ZY, Segal D, Reno C, Qian WW, Xiong X, Shafqat-Abbasi H, Ryder PV, Senft R, Cimini BA, Roth FP, Calderwood M, Hill D, Vidal M, Yi SS, Sahni N, Peng J, Gingras AC, Singh S, Carpenter AE, Taipale M. Lacoste J, et al. Among authors: roth fp. bioRxiv [Preprint]. 2023 Sep 5:2023.09.05.556368. doi: 10.1101/2023.09.05.556368. bioRxiv. 2023. PMID: 37732209 Free PMC article. Preprint.
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
van Loggerenberg W, Sowlati-Hashjin S, Weile J, Hamilton R, Chawla A, Sheykhkarimli D, Gebbia M, Kishore N, Frésard L, Mustajoki S, Pischik E, Di Pierro E, Barbaro M, Floderus Y, Schmitt C, Gouya L, Colavin A, Nussbaum R, Friesema ECH, Kauppinen R, To-Figueras J, Aarsand AK, Desnick RJ, Garton M, Roth FP. van Loggerenberg W, et al. Among authors: roth fp. Am J Hum Genet. 2023 Oct 5;110(10):1769-1786. doi: 10.1016/j.ajhg.2023.08.012. Epub 2023 Sep 19. Am J Hum Genet. 2023. PMID: 37729906 Free PMC article.
182 results