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Severus: accurate detection and characterization of somatic structural variation in tumor genomes using long reads.
Keskus A, Bryant A, Ahmad T, Yoo B, Aganezov S, Goretsky A, Donmez A, Lansdon LA, Rodriguez I, Park J, Liu Y, Cui X, Gardner J, McNulty B, Sacco S, Shetty J, Zhao Y, Tran B, Narzisi G, Helland A, Cook DE, Chang PC, Kolesnikov A, Carroll A, Molloy EK, Pushel I, Guest E, Pastinen T, Shafin K, Miga KH, Malikic S, Day CP, Robine N, Sahinalp C, Dean M, Farooqi MS, Paten B, Kolmogorov M. Keskus A, et al. Among authors: sacco s. medRxiv [Preprint]. 2024 Mar 26:2024.03.22.24304756. doi: 10.1101/2024.03.22.24304756. medRxiv. 2024. PMID: 38585974 Free PMC article. Preprint.
The complete sequence and comparative analysis of ape sex chromosomes.
Makova KD, Pickett BD, Harris RS, Hartley GA, Cechova M, Pal K, Nurk S, Yoo D, Li Q, Hebbar P, McGrath BC, Antonacci F, Aubel M, Biddanda A, Borchers M, Bornberg-Bauer E, Bouffard GG, Brooks SY, Carbone L, Carrel L, Carroll A, Chang PC, Chin CS, Cook DE, Craig SJC, de Gennaro L, Diekhans M, Dutra A, Garcia GH, Grady PGS, Green RE, Haddad D, Hallast P, Harvey WT, Hickey G, Hillis DA, Hoyt SJ, Jeong H, Kamali K, Pond SLK, LaPolice TM, Lee C, Lewis AP, Loh YE, Masterson P, McGarvey KM, McCoy RC, Medvedev P, Miga KH, Munson KM, Pak E, Paten B, Pinto BJ, Potapova T, Rhie A, Rocha JL, Ryabov F, Ryder OA, Sacco S, Shafin K, Shepelev VA, Slon V, Solar SJ, Storer JM, Sudmant PH, Sweetalana, Sweeten A, Tassia MG, Thibaud-Nissen F, Ventura M, Wilson MA, Young AC, Zeng H, Zhang X, Szpiech ZA, Huber CD, Gerton JL, Yi SV, Schatz MC, Alexandrov IA, Koren S, O'Neill RJ, Eichler EE, Phillippy AM. Makova KD, et al. Among authors: sacco s. Nature. 2024 May 29. doi: 10.1038/s41586-024-07473-2. Online ahead of print. Nature. 2024. PMID: 38811727
Pangenome graph construction from genome alignments with Minigraph-Cactus.
Hickey G, Monlong J, Ebler J, Novak AM, Eizenga JM, Gao Y; Human Pangenome Reference Consortium; Marschall T, Li H, Paten B. Hickey G, et al. Nat Biotechnol. 2024 Apr;42(4):663-673. doi: 10.1038/s41587-023-01793-w. Epub 2023 May 10. Nat Biotechnol. 2024. PMID: 37165083 Free PMC article.
Increased mutation and gene conversion within human segmental duplications.
Vollger MR, Dishuck PC, Harvey WT, DeWitt WS, Guitart X, Goldberg ME, Rozanski AN, Lucas J, Asri M; Human Pangenome Reference Consortium; Munson KM, Lewis AP, Hoekzema K, Logsdon GA, Porubsky D, Paten B, Harris K, Hsieh P, Eichler EE. Vollger MR, et al. Nature. 2023 May;617(7960):325-334. doi: 10.1038/s41586-023-05895-y. Epub 2023 May 10. Nature. 2023. PMID: 37165237 Free PMC article.
Recombination between heterologous human acrocentric chromosomes.
Guarracino A, Buonaiuto S, de Lima LG, Potapova T, Rhie A, Koren S, Rubinstein B, Fischer C; Human Pangenome Reference Consortium; Gerton JL, Phillippy AM, Colonna V, Garrison E. Guarracino A, et al. Nature. 2023 May;617(7960):335-343. doi: 10.1038/s41586-023-05976-y. Epub 2023 May 10. Nature. 2023. PMID: 37165241 Free PMC article.
The state of health in the European Union (EU-27) in 2019: a systematic analysis for the Global Burden of Disease study 2019.
Santos JV, Padron-Monedero A, Bikbov B, Grad DA, Plass D, Mechili EA, Gazzelloni F, Fischer F, Sulo G, Ngwa CH, Noguer-Zambrano I, Peñalvo JL, Haagsma JA, Kissimova-Skarbek K, Monasta L, Ghith N, Sarmiento-Suarez R, Hrzic R, Haneef R, O'Caoimh R, Cuschieri S, Mondello S, Kabir Z; GBD 2019 EU State of Health Collaborators; Freitas A, Devleesschauwer B. Santos JV, et al. BMC Public Health. 2024 May 22;24(1):1374. doi: 10.1186/s12889-024-18529-3. BMC Public Health. 2024. PMID: 38778362 Free PMC article.
Redefining migraine prevention: early treatment with anti-CGRP monoclonal antibodies enhances response in the real world.
Caronna E, Gallardo VJ, Egeo G, Vázquez MM, Castellanos CN, Membrilla JA, Vaghi G, Rodríguez-Montolio J, Fabregat Fabra N, Sánchez-Caballero F, Jaimes Sánchez A, Muñoz-Vendrell A, Oliveira R, Gárate G, González-Osorio Y, Guisado-Alonso D, Ornello R, Thunstedt C, Fernández-Lázaro I, Torres-Ferrús M, Alpuente A, Torelli P, Aurilia C, Pére RL, Castrillo MJR, Icco R, Sances G, Broadhurst S, Ong HC, García AG, Campoy S, Sanahuja J, Cabral G, Beltrán Blasco I, Waliszewska-Prosół M, Pereira L, Layos-Romero A, Luzeiro I, Dorado L, Álvarez Escudero MR, May A, López-Bravo A, Martins IP, Sundal C, Irimia P, Lozano Ros A, Gago-Veiga AB, Juanes FV, Ruscheweyh R, Sacco S, Cuadrado-Godia E, García-Azorín D, Pascual J, Gil-Gouveia R, Huerta-Villanueva M, Rodriguez-Vico J, Viguera Romero J, Obach V, Santos-Lasaosa S, Ghadiri-Sani M, Tassorelli C, Díaz-de-Terán J, Díaz Insa S, Oria CG, Barbanti P, Pozo-Rosich P; EUREkA study group. Caronna E, et al. Among authors: sacco s. J Neurol Neurosurg Psychiatry. 2024 May 22:jnnp-2023-333295. doi: 10.1136/jnnp-2023-333295. Online ahead of print. J Neurol Neurosurg Psychiatry. 2024. PMID: 38777579
Reperfusion therapies in patients with acute ischaemic stroke and atrial fibrillation: data on safety and effectiveness from a multi-centre cohort study.
Cancelloni V, Buratti M, Tsivgoulis G, Furie KL, Tadi P, Caso V, Becattini C, Agnelli G, Zedde M, Abdul-Rahim AH, Alberti A, Venti M, de Magistris IL, Acciarresi M, D'Amore C, Mosconi MG, Cimini LA, Cappellari M, Putaala J, Tomppo L, Tatlisumak T, Bandini F, Marcheselli S, Pezzini A, Sohn SI, Lorenzini G, Tassi R, Guideri F, Acampa M, Ntaios G, Karagkiozi E, Athanasakis G, Makaritsis K, Sagris D, Adamou A, Vadikolias K, Palaiodimou L, Chondrogianni M, Mumoli N, Galati F, Sacco S, Tiseo C, Corea F, Ageno W, Bellesini M, Silvestrelli G, Ciccone A, Mancuso M, Orlandi G, Pascarella R, Tassinari T, Rueckert C, Baldi A, Toni D, Lettieri F, Giuntini M, Lotti EM, Flomin Y, Pieroni A, Kargiotis O, Karapanayiotides T, Halvatsiotis P, Monaco S, Baronello MM, Csiba L, Szabò L, Chiti A, Giorli E, Del Sette M, Imberti D, Zabzuni D, Doronin B, Volodina V, Michel P, Vanacker P, Barlinn K, Pallesen LP, Kepplinger J, Deleu D, Gourbali V, Yaghi S, Paciaroni M; RAF, R. A. F.-NOACs Investigators. Cancelloni V, et al. Among authors: sacco s. Neurol Sci. 2024 May 22. doi: 10.1007/s10072-024-07555-z. Online ahead of print. Neurol Sci. 2024. PMID: 38775860
627 results