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Multi-omics signatures of the human early life exposome.
Nat Commun. 2022 Nov 21;13(1):7024. doi: 10.1038/s41467-022-34422-2.
Nat Commun. 2022.
PMID: 36411288
Free PMC article.
Identifying chromosomal subpopulations based on their recombination histories advances the study of the genetic basis of phenotypic traits.
Ruiz-Arenas C, Cáceres A, López M, Pelegrí-Sisó D, González J, González JR.
Ruiz-Arenas C, et al. Among authors: pelegri siso d.
Genome Res. 2020 Dec;30(12):1802-1814. doi: 10.1101/gr.258301.119. Epub 2020 Nov 17.
Genome Res. 2020.
PMID: 33203765
Free PMC article.
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Epimutation detection in the clinical context: guidelines and a use case from a new Bioconductor package.
Ruiz-Arenas C, Abarrategui L, Hernandez-Ferrer C, Escribà-Montagut X, Pelegrí-Sisó D, Ryser-Welch P, Vrijheid M, Bustamante M, Grazuleviciene R, Lepeule J, Mathai M, Vafeiadi M, Beltran S, Pérez-Jurado LA, González JR.
Ruiz-Arenas C, et al. Among authors: pelegri siso d.
Epigenetics. 2023 Dec;18(1):2230670. doi: 10.1080/15592294.2023.2230670.
Epigenetics. 2023.
PMID: 37409354
Free PMC article.
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Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.
Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch R, Gallano P, Garrabou G, González JR, Grinberg D, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez-Jurado LA, Beltran S; Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium.
Bullich G, et al.
J Mol Diagn. 2022 May;24(5):529-542. doi: 10.1016/j.jmoldx.2022.02.003.
J Mol Diagn. 2022.
PMID: 35569879
Free article.
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