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Page 1
Identification of constrained sequence elements across 239 primate genomes.
Kuderna LFK, Ulirsch JC, Rashid S, Ameen M, Sundaram L, Hickey G, Cox AJ, Gao H, Kumar A, Aguet F, Christmas MJ, Clawson H, Haeussler M, Janiak MC, Kuhlwilm M, Orkin JD, Bataillon T, Manu S, Valenzuela A, Bergman J, Rouselle M, Silva FE, Agueda L, Blanc J, Gut M, de Vries D, Goodhead I, Harris RA, Raveendran M, Jensen A, Chuma IS, Horvath JE, Hvilsom C, Juan D, Frandsen P, Schraiber JG, de Melo FR, Bertuol F, Byrne H, Sampaio I, Farias I, Valsecchi J, Messias M, da Silva MNF, Trivedi M, Rossi R, Hrbek T, Andriaholinirina N, Rabarivola CJ, Zaramody A, Jolly CJ, Phillips-Conroy J, Wilkerson G, Abee C, Simmons JH, Fernandez-Duque E, Kanthaswamy S, Shiferaw F, Wu D, Zhou L, Shao Y, Zhang G, Keyyu JD, Knauf S, Le MD, Lizano E, Merker S, Navarro A, Nadler T, Khor CC, Lee J, Tan P, Lim WK, Kitchener AC, Zinner D, Gut I, Melin AD, Guschanski K, Schierup MH, Beck RMD, Karakikes I, Wang KC, Umapathy G, Roos C, Boubli JP, Siepel A, Kundaje A, Paten B, Lindblad-Toh K, Rogers J, Marques Bonet T, Farh KK. Kuderna LFK, et al. Among authors: agueda l. Nature. 2024 Jan;625(7996):735-742. doi: 10.1038/s41586-023-06798-8. Epub 2023 Nov 29. Nature. 2024. PMID: 38030727 Free PMC article.
The landscape of tolerated genetic variation in humans and primates.
Gao H, Hamp T, Ede J, Schraiber JG, McRae J, Singer-Berk M, Yang Y, Dietrich ASD, Fiziev PP, Kuderna LFK, Sundaram L, Wu Y, Adhikari A, Field Y, Chen C, Batzoglou S, Aguet F, Lemire G, Reimers R, Balick D, Janiak MC, Kuhlwilm M, Orkin JD, Manu S, Valenzuela A, Bergman J, Rousselle M, Silva FE, Agueda L, Blanc J, Gut M, de Vries D, Goodhead I, Harris RA, Raveendran M, Jensen A, Chuma IS, Horvath JE, Hvilsom C, Juan D, Frandsen P, de Melo FR, Bertuol F, Byrne H, Sampaio I, Farias I, do Amaral JV, Messias M, da Silva MNF, Trivedi M, Rossi R, Hrbek T, Andriaholinirina N, Rabarivola CJ, Zaramody A, Jolly CJ, Phillips-Conroy J, Wilkerson G, Abee C, Simmons JH, Fernandez-Duque E, Kanthaswamy S, Shiferaw F, Wu D, Zhou L, Shao Y, Zhang G, Keyyu JD, Knauf S, Le MD, Lizano E, Merker S, Navarro A, Bataillon T, Nadler T, Khor CC, Lee J, Tan P, Lim WK, Kitchener AC, Zinner D, Gut I, Melin A, Guschanski K, Schierup MH, Beck RMD, Umapathy G, Roos C, Boubli JP, Lek M, Sunyaev S, O'Donnell-Luria A, Rehm HL, Xu J, Rogers J, Marques-Bonet T, Farh KK. Gao H, et al. Among authors: agueda l. Science. 2023 Jun 2;380(6648):eabn8153. doi: 10.1126/science.abn8197. Epub 2023 Jun 2. Science. 2023. PMID: 37262156 Free PMC article.
A global catalog of whole-genome diversity from 233 primate species.
Kuderna LFK, Gao H, Janiak MC, Kuhlwilm M, Orkin JD, Bataillon T, Manu S, Valenzuela A, Bergman J, Rousselle M, Silva FE, Agueda L, Blanc J, Gut M, de Vries D, Goodhead I, Harris RA, Raveendran M, Jensen A, Chuma IS, Horvath JE, Hvilsom C, Juan D, Frandsen P, Schraiber JG, de Melo FR, Bertuol F, Byrne H, Sampaio I, Farias I, Valsecchi J, Messias M, da Silva MNF, Trivedi M, Rossi R, Hrbek T, Andriaholinirina N, Rabarivola CJ, Zaramody A, Jolly CJ, Phillips-Conroy J, Wilkerson G, Abee C, Simmons JH, Fernandez-Duque E, Kanthaswamy S, Shiferaw F, Wu D, Zhou L, Shao Y, Zhang G, Keyyu JD, Knauf S, Le MD, Lizano E, Merker S, Navarro A, Nadler T, Khor CC, Lee J, Tan P, Lim WK, Kitchener AC, Zinner D, Gut I, Melin AD, Guschanski K, Schierup MH, Beck RMD, Umapathy G, Roos C, Boubli JP, Rogers J, Farh KK, Marques Bonet T. Kuderna LFK, et al. Among authors: agueda l. Science. 2023 Jun 2;380(6648):906-913. doi: 10.1126/science.abn7829. Epub 2023 Jun 1. Science. 2023. PMID: 37262161 Free article.
Whole-genome fingerprint of the DNA methylome during human B cell differentiation.
Kulis M, Merkel A, Heath S, Queirós AC, Schuyler RP, Castellano G, Beekman R, Raineri E, Esteve A, Clot G, Verdaguer-Dot N, Duran-Ferrer M, Russiñol N, Vilarrasa-Blasi R, Ecker S, Pancaldi V, Rico D, Agueda L, Blanc J, Richardson D, Clarke L, Datta A, Pascual M, Agirre X, Prosper F, Alignani D, Paiva B, Caron G, Fest T, Muench MO, Fomin ME, Lee ST, Wiemels JL, Valencia A, Gut M, Flicek P, Stunnenberg HG, Siebert R, Küppers R, Gut IG, Campo E, Martín-Subero JI. Kulis M, et al. Among authors: agueda l. Nat Genet. 2015 Jul;47(7):746-56. doi: 10.1038/ng.3291. Epub 2015 Jun 8. Nat Genet. 2015. PMID: 26053498 Free PMC article.
Whole-epigenome analysis in multiple myeloma reveals DNA hypermethylation of B cell-specific enhancers.
Agirre X, Castellano G, Pascual M, Heath S, Kulis M, Segura V, Bergmann A, Esteve A, Merkel A, Raineri E, Agueda L, Blanc J, Richardson D, Clarke L, Datta A, Russiñol N, Queirós AC, Beekman R, Rodríguez-Madoz JR, San José-Enériz E, Fang F, Gutiérrez NC, García-Verdugo JM, Robson MI, Schirmer EC, Guruceaga E, Martens JH, Gut M, Calasanz MJ, Flicek P, Siebert R, Campo E, Miguel JF, Melnick A, Stunnenberg HG, Gut IG, Prosper F, Martín-Subero JI. Agirre X, et al. Among authors: agueda l. Genome Res. 2015 Apr;25(4):478-87. doi: 10.1101/gr.180240.114. Epub 2015 Feb 2. Genome Res. 2015. PMID: 25644835 Free PMC article.
High degree of polyclonality hinders somatic mutation calling in lung brush samples of COPD cases and controls.
Thun GA, Derdak S, Castro-Giner F, Apunte-Ramos K, Águeda L, Wjst M, Boland A, Deleuze JF, Kolsum U, Heiss-Neumann MS, Nowinski A, Gorecka D, Hohlfeld JM, Welte T, Brightling CE, Parr DG, Prasse A, Müller-Quernheim J, Greulich T, Stendardo M, Boschetto P, Barta I, Döme B, Gut M, Singh D, Ziegler-Heitbrock L, Gut IG. Thun GA, et al. Among authors: agueda l. Sci Rep. 2019 Dec 27;9(1):20158. doi: 10.1038/s41598-019-56618-1. Sci Rep. 2019. PMID: 31882973 Free PMC article.
Whole-exome sequencing in splenic marginal zone lymphoma reveals mutations in genes involved in marginal zone differentiation.
Martínez N, Almaraz C, Vaqué JP, Varela I, Derdak S, Beltran S, Mollejo M, Campos-Martin Y, Agueda L, Rinaldi A, Kwee I, Gut M, Blanc J, Oscier D, Strefford JC, Martinez-Lopez J, Salar A, Sole F, Rodriguez-Peralto JL, Diez-Tascón C, García JF, Fraga M, Sebastián E, Alvés J, Menárguez J, González-Carreró J, Casado LF, Bayes M, Bertoni F, Gut I, Piris MA. Martínez N, et al. Among authors: agueda l. Leukemia. 2014 Jun;28(6):1334-40. doi: 10.1038/leu.2013.365. Epub 2013 Dec 3. Leukemia. 2014. PMID: 24296945
24 results