Below are the most recent publications written about "Genome, Human" by people in Profiles.
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Jeffries AM, Yu T, Ziegenfuss JS, Tolles AK, Baer CE, Sotelo CB, Kim Y, Weng Z, Lodato MA. Single-cell transcriptomic and genomic changes in the ageing human brain. Nature. 2025 Oct; 646(8085):657-666.
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Maura F, Kaddoura M, Poos AM, Baughn LB, Ziccheddu B, B?rtsch MA, Cirrincione A, Maclachlan K, Chojnacka M, Diamond B, Papadimitriou M, Blaney P, John L, Reichert P, Huhn S, Gagler D, Zhang Y, Dogan A, Lesokhin AM, Davies F, Goldschmidt H, Fenk R, Weisel KC, Mai EK, Korde N, Morgan GJ, Rajkumar SV, Kumar S, Usmani S, Landgren O, Raab MS, Weinhold N. Temporal genomic dynamics shape clinical trajectory in multiple myeloma. Nat Genet. 2025 Sep; 57(9):2203-2214.
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Hall LL, Smith KP, Lawrence JB. Emerging Functions of the Repeat Genome in Nuclear Structure: A View from the Human Karyotype. Annu Rev Genomics Hum Genet. 2025 Aug; 26(1):45-75.
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Gridina M, Lagunov T, Belokopytova P, Torgunakov N, Nuriddinov M, Nurislamov A, Nazarenko LP, Kashevarova AA, Lopatkina ME, Vasilyev S, Zuev A, Belyaeva EO, Salyukova OA, Cheremnykh AD, Sukhanova NN, Minzhenkova ME, Markova ZG, Demina NA, Stepanchuk Y, Khabarova A, Yan A, Valeev E, Koksharova G, Grigor'eva EV, Kokh N, Lukjanova T, Maximova Y, Musatova E, Shabanova E, Kechin A, Khrapov E, Boyarskih U, Ryzhkova O, Suntsova M, Matrosova A, Karoli M, Manakhov A, Filipenko M, Rogaev E, Shilova NV, Lebedev IN, Fishman V. Combining chromosome conformation capture and exome sequencing for simultaneous detection of structural and single-nucleotide variants. Genome Med. 2025 May 07; 17(1):47.
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Li X, Chen H, Selvaraj MS, Van Buren E, Zhou H, Wang Y, Sun R, McCaw ZR, Yu Z, Jiang MZ, DiCorpo D, Gaynor SM, Dey R, Arnett DK, Benjamin EJ, Bis JC, Blangero J, Boerwinkle E, Bowden DW, Brody JA, Cade BE, Carson AP, Carlson JC, Chami N, Chen YI, Curran JE, de Vries PS, Fornage M, Franceschini N, Freedman BI, Gu C, Heard-Costa NL, He J, Hou L, Hung YJ, Irvin MR, Kaplan RC, Kardia SLR, Kelly TN, Konigsberg I, Kooperberg C, Kral BG, Li C, Li Y, Lin H, Liu CT, Loos RJF, Mahaney MC, Martin LW, Mathias RA, Mitchell BD, Montasser ME, Morrison AC, Naseri T, North KE, Palmer ND, Peyser PA, Psaty BM, Redline S, Reiner AP, Rich SS, Sitlani CM, Smith JA, Taylor KD, Tiwari HK, Vasan RS, Viali S, Wang Z, Wessel J, Yanek LR, Yu B, Dupuis J, Meigs JB, Auer PL, Raffield LM, Manning AK, Rice KM, Rotter JI, Peloso GM, Natarajan P, Li Z, Liu Z, Lin X. A statistical framework for multi-trait rare variant analysis in large-scale whole-genome sequencing studies. Nat Comput Sci. 2025 Feb; 5(2):125-143.
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Siegelmann R, Siegelmann HT. Meta-Analytic Operation of Threshold-independent Filtering (MOTiF) reveals sub-threshold genomic robustness in trisomy: The J?rmungandr Effect. Biochem Biophys Res Commun. 2024 12 10; 737:150802.
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Hall LL, Creamer KM, Byron M, Lawrence JB. Cytogenetic bands and sharp peaks of Alu underlie large-scale segmental regulation of nuclear genome architecture. Nucleus. 2024 Dec; 15(1):2400525.
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Deciphering the impact of genomic variation on function. Nature. 2024 Sep; 633(8028):47-57.
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Chojnacka M, Diamond B, Ziccheddu B, Rustad E, Maclachlan K, Papadimitriou M, Boyle EM, Blaney P, Usmani S, Morgan G, Landgren O, Maura F. Impact of Rare Structural Variant Events in Newly Diagnosed Multiple Myeloma. Clin Cancer Res. 2024 02 01; 30(3):575-585.
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Keough KC, Whalen S, Inoue F, Przytycki PF, Fair T, Deng C, Steyert M, Ryu H, Lindblad-Toh K, Karlsson E, Nowakowski T, Ahituv N, Pollen A, Pollard KS. Three-dimensional genome rewiring in loci with human accelerated regions. Science. 2023 04 28; 380(6643):eabm1696.