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AnFiSA: An open-source computational platform for the analysis of sequencing data for rare genetic disease.
Bouzinier MA, Etin D, Trifonov SI, Evdokimova VN, Ulitin V, Shen J, Kokorev A, Ghazani AA, Chekaluk Y, Albertyn Z, Giersch A, Morton CC, Abraamyan F, Bendapudi PK, Sunyaev S, Undiagnosed Diseases Network, Brigham Genomic Medicine, SEQuencing A Baby For An Optimal Outcome, Quantori, Krier JB. Bouzinier MA, et al. Among authors: morton cc. J Biomed Inform. 2022 Sep;133:104174. doi: 10.1016/j.jbi.2022.104174. Epub 2022 Aug 23. J Biomed Inform. 2022. PMID: 35998814 Free article.
Measurement of circulating viral antigens post-SARS-CoV-2 infection in a multicohort study.
Swank Z, Borberg E, Chen Y, Senussi Y, Chalise S, Manickas-Hill Z, Yu XG, Li JZ, Alter G, Henrich TJ, Kelly JD, Hoh R, Goldberg SA, Deeks SG, Martin JN, Peluso MJ, Talla A, Li X, Skene P, Bumol TF, Torgerson TR, Czartoski JL, McElrath MJ, Karlson EW, Walt DR; RECOVER consortium authors. Swank Z, et al. Clin Microbiol Infect. 2024 Dec;30(12):1599-1605. doi: 10.1016/j.cmi.2024.09.001. Epub 2024 Oct 9. Clin Microbiol Infect. 2024. PMID: 39389851
Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly.
Mostovoy Y, Boone PM, Huang Y, Garimella KV, Tan KT, Russell BE, Salani M, de Esch CEF, Lemanski J, Curall B, Hauenstein J, Lucente D, Bowers T, DeSmet T, Gabriel S, Morton CC, Meyerson M, Hastie AR, Gusella J, Quintero-Rivera F, Brand H, Talkowski ME. Mostovoy Y, et al. Among authors: morton cc. Am J Hum Genet. 2024 Nov 5:S0002-9297(24)00375-6. doi: 10.1016/j.ajhg.2024.10.006. Online ahead of print. Am J Hum Genet. 2024. PMID: 39520989
Rare germline disorders implicate long non-coding RNAs disrupted by chromosomal structural rearrangements.
Andersen RE, Alkuraya IF, Ajeesh A, Sakamoto T, Mena EL, Amr SS, Romi H, Kenna MA, Robson CD, Wilch ES, Nalbandian K, Piña-Aguilar R, Walsh CA, Morton CC. Andersen RE, et al. Among authors: morton cc. medRxiv [Preprint]. 2024 Jun 19:2024.06.16.24307499. doi: 10.1101/2024.06.16.24307499. medRxiv. 2024. Update in: Hum Genet. 2024 Jul;143(7):921-938. doi: 10.1007/s00439-024-02693-y PMID: 38946951 Free PMC article. Updated. Preprint.
379 results