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Tackling the translational challenges of multi-omics research in the realm of European personalised medicine: A workshop report.
Oldoni E, Saunders G, Bietrix F, Garcia Bermejo ML, Niehues A, 't Hoen PAC, Nordlund J, Hajduch M, Scherer A, Kivinen K, Pitkänen E, Mäkela TP, Gut I, Scollen S, Kozera Ł, Esteller M, Shi L, Ussi A, Andreu AL, van Gool AJ. Oldoni E, et al. Among authors: gut i. Front Mol Biosci. 2022 Oct 13;9:974799. doi: 10.3389/fmolb.2022.974799. eCollection 2022. Front Mol Biosci. 2022. PMID: 36310597 Free PMC article.
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.
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.
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.
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.
ONCOLINER: A new solution for monitoring, improving, and harmonizing somatic variant calling across genomic oncology centers.
Martín R, Gaitán N, Jarlier F, Feuerbach L, de Soyres H, Arbonés M, Gutman T, Puiggròs M, Ferriz A, Gonzalez A, Estelles L, Gut I, Capella-Gutierrez S, Stein LD, Brors B, Royo R, Hupé P, Torrents D. Martín R, et al. Among authors: gut i. Cell Genom. 2024 Sep 11;4(9):100639. doi: 10.1016/j.xgen.2024.100639. Epub 2024 Aug 30. Cell Genom. 2024. PMID: 39216474 Free PMC article.
The Catalan initiative for the Earth BioGenome Project: contributing local data to global biodiversity genomics.
Corominas M, Marquès-Bonet T, Arnedo MA, Bayés M, Belmonte J, Escrivà H, Fernández R, Gabaldón T, Garnatje T, Germain J, Niell M, Palero F, Pons J, Puigdomènech P, Initiative For The Earth BioGenome Project TC; Catalan initiative for the Earth BioGenome Project; Arroyo V, Cuevas-Caballé C, Obiol JF, Gut I, Gut M, Hidalgo O, Izquierdo-Arànega G, Pérez-Sorribes L, Righi E, Riutort M, Vallès J, Rozas J, Alioto T, Guigó R. Corominas M, et al. Among authors: gut i. NAR Genom Bioinform. 2024 Jul 17;6(3):lqae075. doi: 10.1093/nargab/lqae075. eCollection 2024 Sep. NAR Genom Bioinform. 2024. PMID: 39022326 Free PMC article.
FixNCut: single-cell genomics through reversible tissue fixation and dissociation.
Jiménez-Gracia L, Marchese D, Nieto JC, Caratù G, Melón-Ardanaz E, Gudiño V, Roth S, Wise K, Ryan NK, Jensen KB, Hernando-Momblona X, Bernardes JP, Tran F, Sievers LK, Schreiber S, van den Berge M, Kole T, van der Velde PL, Nawijn MC, Rosenstiel P, Batlle E, Butler LM, Parish IA, Plummer J, Gut I, Salas A, Heyn H, Martelotto LG. Jiménez-Gracia L, et al. Among authors: gut i. Genome Biol. 2024 Mar 29;25(1):81. doi: 10.1186/s13059-024-03219-5. Genome Biol. 2024. PMID: 38553769 Free PMC article.
494 results