Below are the most recent publications written about "Genome, Human" by people in Profiles.
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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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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.
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Christmas MJ, Kaplow IM, Genereux DP, Dong MX, Hughes GM, Li X, Sullivan PF, Hindle AG, Andrews G, Armstrong JC, Bianchi M, Breit AM, Diekhans M, Fanter C, Foley NM, Goodman DB, Goodman L, Keough KC, Kirilenko B, Kowalczyk A, Lawless C, Lind AL, Meadows JRS, Moreira LR, Redlich RW, Ryan L, Swofford R, Valenzuela A, Wagner F, Wallerman O, Brown AR, Damas J, Fan K, Gatesy J, Grimshaw J, Johnson J, Kozyrev SV, Lawler AJ, Marinescu VD, Morrill KM, Osmanski A, Paulat NS, Phan BN, Reilly SK, Sch?ffer DE, Steiner C, Supple MA, Wilder AP, Wirthlin ME, Xue JR, Birren BW, Gazal S, Hubley RM, Koepfli KP, Marques-Bonet T, Meyer WK, Nweeia M, Sabeti PC, Shapiro B, Smit AFA, Springer MS, Teeling EC, Weng Z, Hiller M, Levesque DL, Lewin HA, Murphy WJ, Navarro A, Paten B, Pollard KS, Ray DA, Ruf I, Ryder OA, Pfenning AR, Lindblad-Toh K, Karlsson EK. Evolutionary constraint and innovation across hundreds of placental mammals. Science. 2023 04 28; 380(6643):eabn3943.
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Sullivan PF, Meadows JRS, Gazal S, Phan BN, Li X, Genereux DP, Dong MX, Bianchi M, Andrews G, Sakthikumar S, Nordin J, Roy A, Christmas MJ, Marinescu VD, Wang C, Wallerman O, Xue J, Yao S, Sun Q, Szatkiewicz J, Wen J, Huckins LM, Lawler A, Keough KC, Zheng Z, Zeng J, Wray NR, Li Y, Johnson J, Chen J, Paten B, Reilly SK, Hughes GM, Weng Z, Pollard KS, Pfenning AR, Forsberg-Nilsson K, Karlsson EK, Lindblad-Toh K. Leveraging base-pair mammalian constraint to understand genetic variation and human disease. Science. 2023 04 28; 380(6643):eabn2937.
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Andrews G, Fan K, Pratt HE, Phalke N, Karlsson EK, Lindblad-Toh K, Gazal S, Moore JE, Weng Z. Mammalian evolution of human cis-regulatory elements and transcription factor binding sites. Science. 2023 04 28; 380(6643):eabn7930.
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Fan K, Pfister E, Weng Z. Toward a comprehensive catalog of regulatory elements. Hum Genet. 2023 Aug; 142(8):1091-1111.