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Expanded encyclopaedias of DNA elements in the human and mouse genomes.
ENCODE Project Consortium; Moore JE, Purcaro MJ, Pratt HE, Epstein CB, Shoresh N, Adrian J, Kawli T, Davis CA, Dobin A, Kaul R, Halow J, Van Nostrand EL, Freese P, Gorkin DU, Shen Y, He Y, Mackiewicz M, Pauli-Behn F, Williams BA, Mortazavi A, Keller CA, Zhang XO, Elhajjajy SI, Huey J, Dickel DE, Snetkova V, Wei X, Wang X, Rivera-Mulia JC, Rozowsky J, Zhang J, Chhetri SB, Zhang J, Victorsen A, White KP, Visel A, Yeo GW, Burge CB, Lécuyer E, Gilbert DM, Dekker J, Rinn J, Mendenhall EM, Ecker JR, Kellis M, Klein RJ, Noble WS, Kundaje A, Guigó R, Farnham PJ, Cherry JM, Myers RM, Ren B, Graveley BR, Gerstein MB, Pennacchio LA, Snyder MP, Bernstein BE, Wold B, Hardison RC, Gingeras TR, Stamatoyannopoulos JA, Weng Z. ENCODE Project Consortium, et al. Among authors: burge cb. Nature. 2020 Jul;583(7818):699-710. doi: 10.1038/s41586-020-2493-4. Epub 2020 Jul 29. Nature. 2020. PMID: 32728249 Free PMC article.
Regulatory features aid interpretation of 3'UTR Variants.
Romo L, Findlay SD, Burge CB. Romo L, et al. Among authors: burge cb. bioRxiv [Preprint]. 2023 Aug 2:2023.08.01.551549. doi: 10.1101/2023.08.01.551549. bioRxiv. 2023. PMID: 37577470 Free PMC article. Updated. Preprint.
Regulatory features aid interpretation of 3'UTR variants.
Romo L, Findlay SD, Burge CB. Romo L, et al. Among authors: burge cb. Am J Hum Genet. 2024 Feb 1;111(2):350-363. doi: 10.1016/j.ajhg.2023.12.017. Epub 2024 Jan 17. Am J Hum Genet. 2024. PMID: 38237594
Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease.
Martin-Geary AC, Blakes AJM, Dawes R, Findlay SD, Lord J, Walker S, Talbot-Martin J, Wieder N, D'Souza EN, Fernandes M, Hilton S, Lahiri N, Campbell C, Jenkinson S, DeGoede CGEL, Anderson ER, Burge CB, Sanders SJ, Ellingford J, Baralle D, Banka S, Whiffin N. Martin-Geary AC, et al. Among authors: burge cb. medRxiv [Preprint]. 2023 Sep 12:2023.09.12.23295416. doi: 10.1101/2023.09.12.23295416. medRxiv. 2023. PMID: 37745552 Free PMC article. Preprint.
Molecular and Cellular Context Influences SCN8A Variant Function.
Vanoye CG, Abramova TV, DeKeyser JM, Ghabra NF, Oudin MJ, Burge CB, Helbig I, Thompson CH, George AL. Vanoye CG, et al. Among authors: burge cb. bioRxiv [Preprint]. 2023 Nov 13:2023.11.11.566702. doi: 10.1101/2023.11.11.566702. bioRxiv. 2023. PMID: 38014225 Free PMC article. Preprint.
141 results