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An interconnected data infrastructure to support large-scale rare disease research.
Johansson LF, Laurie S, Spalding D, Gibson S, Ruvolo D, Thomas C, Piscia D, de Andrade F, Been G, Bijlsma M, Brunner H, Cimerman S, Dizjikan FY, Ellwanger K, Fernandez M, Freeberg M, van de Geijn GJ, Kanninga R, Maddi V, Mehtarizadeh M, Neerincx P, Ossowski S, Rath A, Roelofs-Prins D, Stok-Benjamins M, van der Velde KJ, Veal C, van der Vries G, Wadsley M, Warren G, Zurek B, Keane T, Graessner H, Beltran S, Swertz MA, Brookes AJ; Solve-RD consortium. Johansson LF, et al. Gigascience. 2024 Jan 2;13:giae058. doi: 10.1093/gigascience/giae058. Gigascience. 2024. PMID: 39302238 Free PMC article.
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Demidov G, et al. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. NPJ Genom Med. 2024. PMID: 39461972 Free PMC article.
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. 2020 Feb 5;11(1):735. doi: 10.1038/s41467-019-13983-9. Nat Commun. 2020. PMID: 32024846 Free PMC article.
Ecological and anthropogenic effects on the genomic diversity of lemurs in Madagascar.
Orkin JD, Kuderna LFK, Hermosilla-Albala N, Fontsere C, Aylward ML, Janiak MC, Andriaholinirina N, Balaresque P, Blair ME, Fausser JL, Gut IG, Gut M, Hahn MW, Harris RA, Horvath JE, Keyser C, Kitchener AC, Le MD, Lizano E, Merker S, Nadler T, Perry GH, Rabarivola CJ, Rasmussen L, Raveendran M, Roos C, Wu DD, Zaramody A, Zhang G, Zinner D, Pozzi L, Rogers J, Farh KK, Marques Bonet T. Orkin JD, et al. Among authors: gut ig. Nat Ecol Evol. 2024 Dec 27. doi: 10.1038/s41559-024-02596-1. Online ahead of print. Nat Ecol Evol. 2024. PMID: 39730835
Whole genomes of Amazonian uakari monkeys reveal complex connectivity and fast differentiation driven by high environmental dynamism.
Hermosilla-Albala N, Silva FE, Cuadros-Espinoza S, Fontsere C, Valenzuela-Seba A, Pawar H, Gut M, Kelley JL, Ruibal-Puertas S, Alentorn-Moron P, Faella A, Lizano E, Farias I, Hrbek T, Valsecchi J, Gut IG, Rogers J, Farh KK, Kuderna LFK, Marques-Bonet T, Boubli JP. Hermosilla-Albala N, et al. Among authors: gut ig. Commun Biol. 2024 Oct 8;7(1):1283. doi: 10.1038/s42003-024-06901-3. Commun Biol. 2024. PMID: 39379612 Free PMC article.
An atlas of cells in the human tonsil.
Massoni-Badosa R, Aguilar-Fernández S, Nieto JC, Soler-Vila P, Elosua-Bayes M, Marchese D, Kulis M, Vilas-Zornoza A, Bühler MM, Rashmi S, Alsinet C, Caratù G, Moutinho C, Ruiz S, Lorden P, Lunazzi G, Colomer D, Frigola G, Blevins W, Romero-Rivero L, Jiménez-Martínez V, Vidal A, Mateos-Jaimez J, Maiques-Diaz A, Ovejero S, Moreaux J, Palomino S, Gomez-Cabrero D, Agirre X, Weniger MA, King HW, Garner LC, Marini F, Cervera-Paz FJ, Baptista PM, Vilaseca I, Rosales C, Ruiz-Gaspà S, Talks B, Sidhpura K, Pascual-Reguant A, Hauser AE, Haniffa M, Prosper F, Küppers R, Gut IG, Campo E, Martin-Subero JI, Heyn H. Massoni-Badosa R, et al. Among authors: gut ig. Immunity. 2024 Feb 13;57(2):379-399.e18. doi: 10.1016/j.immuni.2024.01.006. Epub 2024 Jan 31. Immunity. 2024. PMID: 38301653 Free PMC article.
212 results