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Transcriptomics and chromatin accessibility in multiple African population samples.
DeGorter MK, Goddard PC, Karakoc E, Kundu S, Yan SM, Nachun D, Abell N, Aguirre M, Carstensen T, Chen Z, Durrant M, Dwaracherla VR, Feng K, Gloudemans MJ, Hunter N, Moorthy MPS, Pomilla C, Rodrigues KB, Smith CJ, Smith KS, Ungar RA, Balliu B, Fellay J, Flicek P, McLaren PJ, Henn B, McCoy RC, Sugden L, Kundaje A, Sandhu MS, Gurdasani D, Montgomery SB. DeGorter MK, et al. Among authors: aguirre m. bioRxiv [Preprint]. 2023 Nov 6:2023.11.04.564839. doi: 10.1101/2023.11.04.564839. bioRxiv. 2023. PMID: 37986808 Free PMC article. Preprint.
Landscape of X chromosome inactivation across human tissues.
Tukiainen T, Villani AC, Yen A, Rivas MA, Marshall JL, Satija R, Aguirre M, Gauthier L, Fleharty M, Kirby A, Cummings BB, Castel SE, Karczewski KJ, Aguet F, Byrnes A; GTEx Consortium; Laboratory, Data Analysis &Coordinating Center (LDACC)—Analysis Working Group; Statistical Methods groups—Analysis Working Group; Enhancing GTEx (eGTEx) groups; NIH Common Fund; NIH/NCI; NIH/NHGRI; NIH/NIMH; NIH/NIDA; Biospecimen Collection Source Site—NDRI; Biospecimen Collection Source Site—RPCI; Biospecimen Core Resource—VARI; Brain Bank Repository—University of Miami Brain Endowment Bank; Leidos Biomedical—Project Management; ELSI Study; Genome Browser Data Integration &Visualization—EBI; Genome Browser Data Integration &Visualization—UCSC Genomics Institute, University of California Santa Cruz; Lappalainen T, Regev A, Ardlie KG, Hacohen N, MacArthur DG. Tukiainen T, et al. Among authors: aguirre m. Nature. 2017 Oct 11;550(7675):244-248. doi: 10.1038/nature24265. Nature. 2017. PMID: 29022598 Free PMC article.
Integration of rare expression outlier-associated variants improves polygenic risk prediction.
Smail C, Ferraro NM, Hui Q, Durrant MG, Aguirre M, Tanigawa Y, Keever-Keigher MR, Rao AS, Justesen JM, Li X, Gloudemans MJ, Assimes TL, Kooperberg C, Reiner AP, Huang J, O'Donnell CJ, Sun YV; Million Veteran Program; Rivas MA, Montgomery SB. Smail C, et al. Among authors: aguirre m. Am J Hum Genet. 2022 Jun 2;109(6):1055-1064. doi: 10.1016/j.ajhg.2022.04.015. Epub 2022 May 18. Am J Hum Genet. 2022. PMID: 35588732 Free PMC article.
Genetics of 35 blood and urine biomarkers in the UK Biobank.
Sinnott-Armstrong N, Tanigawa Y, Amar D, Mars N, Benner C, Aguirre M, Venkataraman GR, Wainberg M, Ollila HM, Kiiskinen T, Havulinna AS, Pirruccello JP, Qian J, Shcherbina A; FinnGen; Rodriguez F, Assimes TL, Agarwala V, Tibshirani R, Hastie T, Ripatti S, Pritchard JK, Daly MJ, Rivas MA. Sinnott-Armstrong N, et al. Among authors: aguirre m. Nat Genet. 2021 Feb;53(2):185-194. doi: 10.1038/s41588-020-00757-z. Epub 2021 Jan 18. Nat Genet. 2021. PMID: 33462484 Free PMC article.
Genetic Determinants of the Interventricular Septum Are Linked to Ventricular Septal Defects and Hypertrophic Cardiomyopathy.
Yu M, Harper AR, Aguirre M, Pittman M, Tcheandjieu C, Amgalan D, Grace C, Goel A, Farrall M, Xiao K, Engreitz J, Pollard KS, Watkins H, Priest JR. Yu M, et al. Among authors: aguirre m. Circ Genom Precis Med. 2023 Jun;16(3):207-215. doi: 10.1161/CIRCGEN.122.003708. Epub 2023 Apr 5. Circ Genom Precis Med. 2023. PMID: 37017090 Free PMC article.
Bayesian model comparison for rare-variant association studies.
Venkataraman GR, DeBoever C, Tanigawa Y, Aguirre M, Ioannidis AG, Mostafavi H, Spencer CCA, Poterba T, Bustamante CD, Daly MJ, Pirinen M, Rivas MA. Venkataraman GR, et al. Among authors: aguirre m. Am J Hum Genet. 2021 Dec 2;108(12):2354-2367. doi: 10.1016/j.ajhg.2021.11.005. Epub 2021 Nov 24. Am J Hum Genet. 2021. PMID: 34822764 Free PMC article.
Oligogenic Architecture of Rare Noncoding Variants Distinguishes 4 Congenital Heart Disease Phenotypes.
Yu M, Aguirre M, Jia M, Gjoni K, Cordova-Palomera A, Munger C, Amgalan D, Rosa Ma X, Pereira A, Tcheandjieu C, Seidman C, Seidman J, Tristani-Firouzi M, Chung W, Goldmuntz E, Srivastava D, Loos RJF, Chami N, Cordell H, Dreßen M, Mueller-Myhsok B, Lahm H, Krane M, Pollard KS, Engreitz JM, Gagliano Taliun SA, Gelb BD, Priest JR. Yu M, et al. Among authors: aguirre m. Circ Genom Precis Med. 2023 Jun;16(3):258-266. doi: 10.1161/CIRCGEN.122.003968. Epub 2023 Apr 7. Circ Genom Precis Med. 2023. PMID: 37026454 Free PMC article.
649 results