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Leveraging base-pair mammalian constraint to understand genetic variation and human disease.
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; Zoonomia Consortium§; Paten B, Reilly SK, Hughes GM, Weng Z, Pollard KS, Pfenning AR, Forsberg-Nilsson K, Karlsson EK, Lindblad-Toh K. Sullivan PF, et al. Among authors: wen j. Science. 2023 Apr 28;380(6643):eabn2937. doi: 10.1126/science.abn2937. Epub 2023 Apr 28. Science. 2023. PMID: 37104612 Free PMC article.
Rare tandem repeat expansions associate with genes involved in synaptic and neuronal signaling functions in schizophrenia.
Wen J, Trost B, Engchuan W, Halvorsen M, Pallotto LM, Mitina A, Ancalade N, Farrell M, Backstrom I, Guo K, Pellecchia G, Thiruvahindrapuram B, Giusti-Rodriguez P, Rosen JD, Li Y, Won H, Magnusson PKE, Gyllensten U, Bassett AS, Hultman CM, Sullivan PF, Yuen RKC, Szatkiewicz JP. Wen J, et al. Mol Psychiatry. 2023 Jan;28(1):475-482. doi: 10.1038/s41380-022-01857-4. Epub 2022 Nov 16. Mol Psychiatry. 2023. PMID: 36380236 Free PMC article.
Leveraging Base Pair Mammalian Constraint to Understand Genetic Variation and Human Disease.
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, Wallerman O, Xue JR, Li Y, Yao S, Sun Q, Szatkiewicz J, Wen J, Huckins LM, Lawler AJ, Keough KC, Zheng Z, Zeng J, Wray NR, Johnson J, Chen J; Zoonomia Consortium; Paten B, Reilly SK, Hughes GM, Weng Z, Pollard KS, Pfenning AR, Forsberg-Nilsson K, Karlsson EK, Lindblad-Toh K. Sullivan PF, et al. Among authors: wen j. bioRxiv [Preprint]. 2023 Mar 10:2023.03.10.531987. doi: 10.1101/2023.03.10.531987. bioRxiv. 2023. PMID: 36945512 Free PMC article. Updated. Preprint.
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. Sun Q, et al. Among authors: wen j. Am J Hum Genet. 2024 May 2;111(5):990-995. doi: 10.1016/j.ajhg.2024.04.001. Epub 2024 Apr 17. Am J Hum Genet. 2024. PMID: 38636510
Genetic Modifiers of Cystic Fibrosis Lung Disease Severity: Whole-Genome Analysis of 7,840 Patients.
Zhou YH, Gallins PJ, Pace RG, Dang H, Aksit MA, Blue EE, Buckingham KJ, Collaco JM, Faino AV, Gordon WW, Hetrick KN, Ling H, Liu W, Onchiri FM, Pagel K, Pugh EW, Raraigh KS, Rosenfeld M, Sun Q, Wen J, Li Y, Corvol H, Strug LJ, Bamshad MJ, Blackman SM, Cutting GR, Gibson RL, O'Neal WK, Wright FA, Knowles MR. Zhou YH, et al. Among authors: wen j. Am J Respir Crit Care Med. 2023 May 15;207(10):1324-1333. doi: 10.1164/rccm.202209-1653OC. Am J Respir Crit Care Med. 2023. PMID: 36921087
Expression quantitative trait methylation analysis elucidates gene regulatory effects of DNA methylation: the Framingham Heart Study.
Keshawarz A, Bui H, Joehanes R, Ma J, Liu C, Huan T, Hwang SJ, Tejada B, Sooda M, Courchesne P, Munson PJ, Demirkale CY, Yao C, Heard-Costa NL, Pitsillides AN, Lin H, Liu CT, Wang Y, Peloso GM, Lundin J, Haessler J, Du Z, Cho M, Hersh CP, Castaldi P, Raffield LM, Wen J, Li Y, Reiner AP, Feolo M, Sharopova N, Vasan RS, DeMeo DL, Carson AP, Kooperberg C, Levy D. Keshawarz A, et al. Among authors: wen j. Sci Rep. 2023 Aug 10;13(1):12952. doi: 10.1038/s41598-023-39936-3. Sci Rep. 2023. PMID: 37563237 Free PMC article.
Genome-wide study investigating effector genes and polygenic prediction for kidney function in persons with ancestry from Africa and the Americas.
Hughes O, Bentley AR, Breeze CE, Aguet F, Xu X, Nadkarni G, Sun Q, Lin BM, Gilliland T, Meyer MC, Du J, Raffield LM, Kramer H, Morton RW, Gouveia MH, Atkinson EG, Valladares-Salgado A, Wacher-Rodarte N, Dueker ND, Guo X, Hai Y, Adeyemo A, Best LG, Cai J, Chen G, Chong M, Doumatey A, Eales J, Goodarzi MO, Ipp E, Irvin MR, Jiang M, Jones AC, Kooperberg C, Krieger JE, Lange EM, Lanktree MB, Lash JP, Lotufo PA, Loos RJF, Ha My VT, Peralta-Romero J, Qi L, Raffel LJ, Rich SS, Rodriquez EJ, Tarazona-Santos E, Taylor KD, Umans JG, Wen J, Young BA, Yu Z, Zhang Y, Ida Chen YD, Rundek T, Rotter JI, Cruz M, Fornage M, Lima-Costa MF, Pereira AC, Paré G, Natarajan P, Cole SA, Carson AP, Lange LA, Li Y, Perez-Stable EJ, Do R, Charchar FJ, Tomaszewski M, Mychaleckyj JC, Rotimi C, Morris AP, Franceschini N. Hughes O, et al. Among authors: wen j. Cell Genom. 2024 Jan 10;4(1):100468. doi: 10.1016/j.xgen.2023.100468. Epub 2023 Dec 22. Cell Genom. 2024. PMID: 38190104 Free PMC article.
8,613 results