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161 results

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Page 1
Genetic interactions drive heterogeneity in causal variant effect sizes for gene expression and complex traits.
Patel RA, Musharoff SA, Spence JP, Pimentel H, Tcheandjieu C, Mostafavi H, Sinnott-Armstrong N, Clarke SL, Smith CJ; V.A. Million Veteran Program; Durda PP, Taylor KD, Tracy R, Liu Y, Johnson WC, Aguet F, Ardlie KG, Gabriel S, Smith J, Nickerson DA, Rich SS, Rotter JI, Tsao PS, Assimes TL, Pritchard JK. Patel RA, et al. Among authors: aguet f. Am J Hum Genet. 2022 Jul 7;109(7):1286-1297. doi: 10.1016/j.ajhg.2022.05.014. Epub 2022 Jun 17. Am J Hum Genet. 2022. PMID: 35716666 Free PMC article.
Single cell characterization of myeloma and its precursor conditions reveals transcriptional signatures of early tumorigenesis.
Boiarsky R, Haradhvala NJ, Alberge JB, Sklavenitis-Pistofidis R, Mouhieddine TH, Zavidij O, Shih MC, Firer D, Miller M, El-Khoury H, Anand SK, Aguet F, Sontag D, Ghobrial IM, Getz G. Boiarsky R, et al. Among authors: aguet f. Nat Commun. 2022 Nov 17;13(1):7040. doi: 10.1038/s41467-022-33944-z. Nat Commun. 2022. PMID: 36396631 Free PMC article.
Genetic analysis in UK Biobank links insulin resistance and transendothelial migration pathways to coronary artery disease.
Klarin D, Zhu QM, Emdin CA, Chaffin M, Horner S, McMillan BJ, Leed A, Weale ME, Spencer CCA, Aguet F, Segrè AV, Ardlie KG, Khera AV, Kaushik VK, Natarajan P; CARDIoGRAMplusC4D Consortium; Kathiresan S. Klarin D, et al. Among authors: aguet f. Nat Genet. 2017 Sep;49(9):1392-1397. doi: 10.1038/ng.3914. Epub 2017 Jul 17. Nat Genet. 2017. PMID: 28714974 Free PMC article.
The impact of rare variation on gene expression across tissues.
Li X, Kim Y, Tsang EK, Davis JR, Damani FN, Chiang C, Hess GT, Zappala Z, Strober BJ, Scott AJ, Li A, Ganna A, Bassik MC, Merker JD; 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; Hall IM, Battle A, Montgomery SB. Li X, et al. Nature. 2017 Oct 11;550(7675):239-243. doi: 10.1038/nature24267. Nature. 2017. PMID: 29022581 Free PMC article.
Genetic effects on gene expression across human tissues.
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; Lead analysts:; Laboratory, Data Analysis &Coordinating Center (LDACC):; NIH program management:; Biospecimen collection:; Pathology:; eQTL manuscript working group:; Battle A, Brown CD, Engelhardt BE, Montgomery SB. GTEx Consortium, et al. Nature. 2017 Oct 11;550(7675):204-213. doi: 10.1038/nature24277. Nature. 2017. PMID: 29022597 Free PMC article.
Using an atlas of gene regulation across 44 human tissues to inform complex disease- and trait-associated variation.
Gamazon ER, Segrè AV, van de Bunt M, Wen X, Xi HS, Hormozdiari F, Ongen H, Konkashbaev A, Derks EM, Aguet F, Quan J; GTEx Consortium; Nicolae DL, Eskin E, Kellis M, Getz G, McCarthy MI, Dermitzakis ET, Cox NJ, Ardlie KG. Gamazon ER, et al. Among authors: aguet f. Nat Genet. 2018 Jul;50(7):956-967. doi: 10.1038/s41588-018-0154-4. Epub 2018 Jun 28. Nat Genet. 2018. PMID: 29955180 Free PMC article.
Scaling computational genomics to millions of individuals with GPUs.
Taylor-Weiner A, Aguet F, Haradhvala NJ, Gosai S, Anand S, Kim J, Ardlie K, Van Allen EM, Getz G. Taylor-Weiner A, et al. Among authors: aguet f. Genome Biol. 2019 Nov 1;20(1):228. doi: 10.1186/s13059-019-1836-7. Genome Biol. 2019. PMID: 31675989 Free PMC article.
De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population.
Kessler MD, Loesch DP, Perry JA, Heard-Costa NL, Taliun D, Cade BE, Wang H, Daya M, Ziniti J, Datta S, Celedón JC, Soto-Quiros ME, Avila L, Weiss ST, Barnes K, Redline SS, Vasan RS, Johnson AD, Mathias RA, Hernandez R, Wilson JG, Nickerson DA, Abecasis G, Browning SR, Zöllner S, O'Connell JR, Mitchell BD; National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Population Genetics Working Group; O'Connor TD. Kessler MD, et al. Proc Natl Acad Sci U S A. 2020 Feb 4;117(5):2560-2569. doi: 10.1073/pnas.1902766117. Epub 2020 Jan 21. Proc Natl Acad Sci U S A. 2020. PMID: 31964835 Free PMC article.
Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale.
Li X, Li Z, Zhou H, Gaynor SM, Liu Y, Chen H, Sun R, Dey R, Arnett DK, Aslibekyan S, Ballantyne CM, Bielak LF, Blangero J, Boerwinkle E, Bowden DW, Broome JG, Conomos MP, Correa A, Cupples LA, Curran JE, Freedman BI, Guo X, Hindy G, Irvin MR, Kardia SLR, Kathiresan S, Khan AT, Kooperberg CL, Laurie CC, Liu XS, Mahaney MC, Manichaikul AW, Martin LW, Mathias RA, McGarvey ST, Mitchell BD, Montasser ME, Moore JE, Morrison AC, O'Connell JR, Palmer ND, Pampana A, Peralta JM, Peyser PA, Psaty BM, Redline S, Rice KM, Rich SS, Smith JA, Tiwari HK, Tsai MY, Vasan RS, Wang FF, Weeks DE, Weng Z, Wilson JG, Yanek LR; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Lipids Working Group; Neale BM, Sunyaev SR, Abecasis GR, Rotter JI, Willer CJ, Peloso GM, Natarajan P, Lin X. Li X, et al. Nat Genet. 2020 Sep;52(9):969-983. doi: 10.1038/s41588-020-0676-4. Epub 2020 Aug 24. Nat Genet. 2020. PMID: 32839606 Free PMC article.
161 results