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UNC Genetics PublicationsDepartment of Genetics faculty, postdocs, students and collaborators published 12 papers during April 14th – 27th, 2024.

 

MagicalRsq-X: A cross-cohort transferable genotype imputation quality metric. 

Sun Q, Yang Y, Rosen JD, Chen J, Li X, Guan W, Jiang MZ, Wen J, Pace RG, Blackman SM, Bamshad MJ, Gibson RL, Cutting GR, O’Neal WK, Knowles MR, Kooperberg C, Reiner AP, Raffield LM, Carson AP, Rich SS, Rotter JI, Loos RJF, Kenny E, Jaeger BC, Min YI, Fuchsberger C, Li Y.

Am J Hum Genet. 2024 Apr 9:S0002-9297(24)00116-2. doi: 10.1016/j.ajhg.2024.04.001. Online ahead of print.

PMID: 38636510

 

CoVar: A generalizable machine learning approach to identify the coordinated regulators driving variational gene expression. 

Roy S, Sheikh SZ, Furey TS.

PLoS Comput Biol. 2024 Apr 17;20(4):e1012016. doi: 10.1371/journal.pcbi.1012016. Online ahead of print.

PMID: 38630807

 

CHD4 and SMYD1 repress common transcriptional programs in the developing heart. 

Shi W, Wasson LK, Dorr KM, Robbe ZL, Wilczewski CM, Hepperla AJ, Davis IJ, Seidman CE, Seidman JG, Conlon FL.

Development. 2024 Apr 15:dev.202505. doi: 10.1242/dev.202505. Online ahead of print.

PMID: 38619323

 

Von Hippel Lindau tumor suppressor controls m6A-dependent gene expression in renal tumorigenesis. 

Zhang C, Yu M, Hepperla AJ, Zhang Z, Raj R, Zhong H, Zhou J, Hu L, Fang J, Liu H, Liang Q, Jia L, Liao C, Xi S, Simon JM, Xu K, Liu Z, Nam Y, Kapur P, Zhang Q.

J Clin Invest. 2024 Apr 15;134(8):e175703. doi: 10.1172/JCI175703.

PMID: 38618952 Free PMC article.

 

MutLα suppresses error-prone DNA mismatch repair and preferentially protects noncoding DNA from mutations. 

Kadyrova LY, Mieczkowski PA, Kadyrov FA.

bioRxiv [Preprint]. 2024 Apr 2:2024.04.01.587563. doi: 10.1101/2024.04.01.587563.

PMID: 38617288 Free PMC article. Preprint.

 

Disentangling sex-dependent effects of APOE on diverse trajectories of cognitive decline in Alzheimer’s disease. 

Ma H, Shi Z, Kim M, Liu B, Smith PJ, Liu Y, Wu G; Alzheimer’s Disease Neuroimaging Initiative (ADNI).

Neuroimage. 2024 Apr 12;292:120609. doi: 10.1016/j.neuroimage.2024.120609. Online ahead of print.

PMID: 38614371

 

Joint genotypic and phenotypic outcome modeling improves base editing variant effect quantification. 

Ryu J, Barkal S, Yu T, Jankowiak M, Zhou Y, Francoeur M, Phan QV, Li Z, Tognon M, Brown L, Love MI, Bhat V, Lettre G, Ascher DB, Cassa CA, Sherwood RI, Pinello L.

Nat Genet. 2024 Apr 24. doi: 10.1038/s41588-024-01726-6. Online ahead of print.

PMID: 38658794

 

Single-cell analysis revealing the metabolic landscape of prostate cancer. 

Wang J, Ding HK, Xu HJ, Hu DK, Hankey W, Chen L, Xiao J, Liang CZ, Zhao B, Xu LF.

Asian J Androl. 2024 Apr 23. doi: 10.4103/aja20243. Online ahead of print.

PMID: 38657119

 

Mapping of susceptibility loci for Ebola virus pathogenesis in mice. 

Schäfer A, Marzi A, Furuyama W, Catanzaro NJ, Nguyen C, Haddock E, Feldmann F, Meade-White K, Thomas T, Hubbard ML, Gully KL, Leist SR, Hock P, Bell TA, De la Cruz GE, Midkiff BR, Martinez DR, Shaw GD, Miller DR, Vernon MJ, Graham RL, Cowley DO, Montgomery SA, Schughart K, de Villena FPM, Wilkerson GK, Ferris MT, Feldmann H, Baric RS.

Cell Rep. 2024 Apr 21;43(5):114127. doi: 10.1016/j.celrep.2024.114127. Online ahead of print.

PMID: 38652660

 

Genomics of severe and treatment-resistant obsessive-compulsive disorder treated with deep brain stimulation: A preliminary investigation. 

Chen LL, Naesström M, Halvorsen M, Fytagoridis A, Crowley SB, Mataix-Cols D, Rück C, Crowley JJ, Pascal D.

Am J Med Genet B Neuropsychiatr Genet. 2024 Apr 22:e32983. doi: 10.1002/ajmg.b.32983. Online ahead of print.

PMID: 38650085

 

Dysregulation of innate immune signaling in animal models of spinal muscular atrophy. 

Garcia EL, Steiner RE, Raimer AC, Herring LE, Matera AG, Spring AM.

BMC Biol. 2024 Apr 25;22(1):94. doi: 10.1186/s12915-024-01888-z.

PMID: 38664795

 

Multi-response Regression for Block-missing Multi-modal Data without Imputation. 

Wang H, Li Q, Liu Y.

Stat Sin. 2024 Apr;34(2):527-546. doi: 10.5705/ss.202021.0170.

PMID: 38655129 Free PMC article.