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The EN-TEx resource of multi-tissue personal epigenomes & variant-impact models.
Rozowsky J, Gao J, Borsari B, Yang YT, Galeev T, Gürsoy G, Epstein CB, Xiong K, Xu J, Li T, Liu J, Yu K, Berthel A, Chen Z, Navarro F, Sun MS, Wright J, Chang J, Cameron CJF, Shoresh N, Gaskell E, Drenkow J, Adrian J, Aganezov S, Aguet F, Balderrama-Gutierrez G, Banskota S, Corona GB, Chee S, Chhetri SB, Cortez Martins GC, Danyko C, Davis CA, Farid D, Farrell NP, Gabdank I, Gofin Y, Gorkin DU, Gu M, Hecht V, Hitz BC, Issner R, Jiang Y, Kirsche M, Kong X, Lam BR, Li S, Li B, Li X, Lin KZ, Luo R, Mackiewicz M, Meng R, Moore JE, Mudge J, Nelson N, Nusbaum C, Popov I, Pratt HE, Qiu Y, Ramakrishnan S, Raymond J, Salichos L, Scavelli A, Schreiber JM, Sedlazeck FJ, See LH, Sherman RM, Shi X, Shi M, Sloan CA, Strattan JS, Tan Z, Tanaka FY, Vlasova A, Wang J, Werner J, Williams B, Xu M, Yan C, Yu L, Zaleski C, Zhang J, Ardlie K, Cherry JM, Mendenhall EM, Noble WS, Weng Z, Levine ME, Dobin A, Wold B, Mortazavi A, Ren B, Gillis J, Myers RM, Snyder MP, Choudhary J, Milosavljevic A, Schatz MC, Bernstein BE, Guigó R, Gingeras TR, Gerstein M. Rozowsky J, et al. Among authors: guigo r. Cell. 2023 Mar 30;186(7):1493-1511.e40. doi: 10.1016/j.cell.2023.02.018. Cell. 2023. PMID: 37001506 Free PMC article.
GENCODE: reference annotation for the human and mouse genomes in 2023.
Frankish A, Carbonell-Sala S, Diekhans M, Jungreis I, Loveland JE, Mudge JM, Sisu C, Wright JC, Arnan C, Barnes I, Banerjee A, Bennett R, Berry A, Bignell A, Boix C, Calvet F, Cerdán-Vélez D, Cunningham F, Davidson C, Donaldson S, Dursun C, Fatima R, Giorgetti S, Giron CG, Gonzalez JM, Hardy M, Harrison PW, Hourlier T, Hollis Z, Hunt T, James B, Jiang Y, Johnson R, Kay M, Lagarde J, Martin FJ, Gómez LM, Nair S, Ni P, Pozo F, Ramalingam V, Ruffier M, Schmitt BM, Schreiber JM, Steed E, Suner MM, Sumathipala D, Sycheva I, Uszczynska-Ratajczak B, Wass E, Yang YT, Yates A, Zafrulla Z, Choudhary JS, Gerstein M, Guigo R, Hubbard TJP, Kellis M, Kundaje A, Paten B, Tress ML, Flicek P. Frankish A, et al. Among authors: guigo r. Nucleic Acids Res. 2023 Jan 6;51(D1):D942-D949. doi: 10.1093/nar/gkac1071. Nucleic Acids Res. 2023. PMID: 36420896 Free PMC article.
An Insertion Within SIRPβ1 Shows a Dual Effect Over Alzheimer's Disease Cognitive Decline Altering the Microglial Response.
García-Alberca JM, de Rojas I, Sanchez-Mejias E, Garrido-Martín D, Gonzalez-Palma L, Jimenez S, Pino-Angeles A, Cruz-Gamero JM, Mendoza S, Alarcón-Martín E; GERALD consortium; Muñoz-Castro C, Real LM, Tena JJ, Polvillo R, Govantes F, Lopez A, Royo-Aguado JL, Navarro V, Gonzalez I, Ruiz M, Reyes-Engel A, Gris E, Bravo MJ, Lopez-Gutierrez L, Mejias-Ortega M, De la Guía P, López de la Rica M, Ocejo O, Torrecilla J, Zafra C, Nieto MD, Urbano C, Jiménez-Sánchez R, Pareja N, Luque M, García-Peralta M, Carrillejo R, Furniet MDC, Rueda L, Sánchez-Fernández A, Mancilla T, Peña I, García-Casares N, Moreno-Grau S, Hernández I, Montrreal L, Quintela I, González-Pérez A, Calero M, Franco-Macías E, Macías J, Menéndez-González M, Frank-García A, Huerto Vilas R, Diez-Fairen M, Lage C, García-Madrona S, García-González P, Valero S, Sotolongo-Grau O, Pérez-Cordón A, Rábano A, Arias Pastor A, Pastor AB, Espinosa A, Corma-Gómez A, Martín Montes Á, Sanabria Á, Martínez Rodríguez C, Buiza-Rueda D, Rodriguez-Rodriguez E, Ortega G, Alvarez I, Rosas Allende I, Pineda JA, Rosende-Roca M, Bernal Sánchez-Arjona M, Fernández-Fuertes M, Alegret M, Roberto N, Del Ser T, Garcia-Ribas G, Sánchez-Juan P, Pastor P,… See abstract for full author list ➔ García-Alberca JM, et al. Among authors: guigo r. J Alzheimers Dis. 2024;98(2):601-618. doi: 10.3233/JAD-231150. J Alzheimers Dis. 2024. PMID: 38427484
An encyclopedia of enhancer-gene regulatory interactions in the human genome.
Gschwind AR, Mualim KS, Karbalayghareh A, Sheth MU, Dey KK, Jagoda E, Nurtdinov RN, Xi W, Tan AS, Jones H, Ma XR, Yao D, Nasser J, Avsec Ž, James BT, Shamim MS, Durand NC, Rao SSP, Mahajan R, Doughty BR, Andreeva K, Ulirsch JC, Fan K, Perez EM, Nguyen TC, Kelley DR, Finucane HK, Moore JE, Weng Z, Kellis M, Bassik MC, Price AL, Beer MA, Guigó R, Stamatoyannopoulos JA, Lieberman Aiden E, Greenleaf WJ, Leslie CS, Steinmetz LM, Kundaje A, Engreitz JM. Gschwind AR, et al. Among authors: guigo r. bioRxiv [Preprint]. 2023 Nov 13:2023.11.09.563812. doi: 10.1101/2023.11.09.563812. bioRxiv. 2023. PMID: 38014075 Free PMC article. Preprint.
A fast non-parametric test of association for multiple traits.
Garrido-Martín D, Calvo M, Reverter F, Guigó R. Garrido-Martín D, et al. Among authors: guigo r. Genome Biol. 2023 Oct 12;24(1):230. doi: 10.1186/s13059-023-03076-8. Genome Biol. 2023. PMID: 37828616 Free PMC article.
The status of the human gene catalogue.
Amaral P, Carbonell-Sala S, De La Vega FM, Faial T, Frankish A, Gingeras T, Guigo R, Harrow JL, Hatzigeorgiou AG, Johnson R, Murphy TD, Pertea M, Pruitt KD, Pujar S, Takahashi H, Ulitsky I, Varabyou A, Wells CA, Yandell M, Carninci P, Salzberg SL. Amaral P, et al. Among authors: guigo r. Nature. 2023 Oct;622(7981):41-47. doi: 10.1038/s41586-023-06490-x. Epub 2023 Oct 4. Nature. 2023. PMID: 37794265 Free PMC article. Review.
298 results