Department of Genetics faculty, postdocs, students and collaborators published 9 papers during October 22nd – November 4th, 2023.
Metabolomic epidemiology offers insights into disease aetiology.
Fuller H, Zhu Y, Nicholas J, Chatelaine HA, Drzymalla EM, Sarvestani AK, Julián-Serrano S, Tahir UA, Sinnott-Armstrong N, Raffield LM, Rahnavard A, Hua X, Shutta KH, Darst BF.
Nat Metab. 2023 Oct;5(10):1656-1672. doi: 10.1038/s42255-023-00903-x. Epub 2023 Oct 23.
PMID: 37872285 Review.
Systematic investigation of allelic regulatory activity of schizophrenia-associated common variants.
McAfee JC, Lee S, Lee J, Bell JL, Krupa O, Davis J, Insigne K, Bond ML, Zhao N, Boyle AP, Phanstiel DH, Love MI, Stein JL, Ruzicka WB, Davila-Velderrain J, Kosuri S, Won H.
Cell Genom. 2023 Sep 15;3(10):100404. doi: 10.1016/j.xgen.2023.100404. eCollection 2023 Oct 11.
PMID: 37868037 Free PMC article.
Josephs KS, Roberts AM, Theotokis P, Walsh R, Ostrowski PJ, Edwards M, Fleming A, Thaxton C, Roberts JD, Care M, Zareba W, Adler A, Sturm AC, Tadros R, Novelli V, Owens E, Bronicki L, Jarinova O, Callewaert B, Peters S, Lumbers T, Jordan E, Asatryan B, Krishnan N, Hershberger RE, Chahal CAA, Landstrom AP, James C, McNally EM, Judge DP, van Tintelen P, Wilde A, Gollob M, Ingles J, Ware JS.
Genome Med. 2023 Oct 23;15(1):86. doi: 10.1186/s13073-023-01246-8.
PMID: 37872640 Free PMC article.
Post-zygotic rescue of meiotic errors causes brain mosaicism and focal epilepsy.
Miller KE, Rivaldi AC, Shinagawa N, Sran S, Navarro JB, Westfall JJ, Miller AR, Roberts RD, Akkari Y, Supinger R, Hester ME, Marhabaie M, Gade M, Lu J, Rodziyevska O, Bhattacharjee MB, Von Allmen GK, Yang E, Lidov HGW, Harini C, Shah MN, Leonard J, Pindrik J, Shaikhouni A, Goldman JE, Pierson CR, Thomas DL, Boué DR, Ostendorf AP, Mardis ER, Poduri A, Koboldt DC, Heinzen EL, Bedrosian TA.
Nat Genet. 2023 Oct 23. doi: 10.1038/s41588-023-01547-z. Online ahead of print.
PMID: 37872450
The sequence kernel association test for multicategorical outcomes.
Jiang Z, Zhang H, Ahearn TU, Garcia-Closas M, Chatterjee N, Zhu H, Zhan X, Zhao N.
Genet Epidemiol. 2023 Sep;47(6):432-449. doi: 10.1002/gepi.22527. Epub 2023 Apr 19.
PMID: 37078108
ImmCellFie: A user-friendly web-based platform to infer metabolic function from omics data.
Masson HO, Borland D, Reilly J, Telleria A, Shrivastava S, Watson M, Bustillos L, Li Z, Capps L, Kellman BP, King ZA, Richelle A, Lewis NE, Robasky K.
STAR Protoc. 2023 Mar 17;4(1):102069. doi: 10.1016/j.xpro.2023.102069. Epub 2023 Jan 25.
PMID: 36853701 Free PMC article.
Mosaic chromosomal alterations in blood across ancestries using whole-genome sequencing.
Jakubek YA, Zhou Y, Stilp A, Bacon J, Wong JW, Ozcan Z, Arnett D, Barnes K, Bis JC, Boerwinkle E, Brody JA, Carson AP, Chasman DI, Chen J, Cho M, Conomos MP, Cox N, Doyle MF, Fornage M, Guo X, Kardia SLR, Lewis JP, Loos RJF, Ma X, Machiela MJ, Mack TM, Mathias RA, Mitchell BD, Mychaleckyj JC, North K, Pankratz N, Peyser PA, Preuss MH, Psaty B, Raffield LM, Vasan RS, Redline S, Rich SS, Rotter JI, Silverman EK, Smith JA, Smith AP, Taub M, Taylor KD, Yun J, Li Y, Desai P, Bick AG, Reiner AP, Scheet P, Auer PL.
Nat Genet. 2023 Oct 30. doi: 10.1038/s41588-023-01553-1. Online ahead of print.
PMID: 37904051
Mapping of neuronal and glial primary cilia contactome and connectome in the human cerebral cortex.
Wu JY, Cho SJ, Descant K, Li PH, Shapson-Coe A, Januszewski M, Berger DR, Meyer C, Casingal C, Huda A, Liu J, Ghashghaei T, Brenman M, Jiang M, Scarborough J, Pope A, Jain V, Stein JL, Guo J, Yasuda R, Lichtman JW, Anton ES.
Neuron. 2023 Oct 27:S0896-6273(23)00719-5. doi: 10.1016/j.neuron.2023.09.032. Online ahead of print.
PMID: 37898123
Goldstein JL, McGlaughon J, Kanavy D, Goomber S, Pan Y, Deml B, Donti T, Kearns L, Seifert BA, Schachter M, Son RG, Thaxton C, Udani R, Bali D, Baudet H, Caggana M, Hung C, Kyriakopoulou L, Rosenblum L, Steiner R, Pinto E Vairo F, Wang Y, Watson M, Fernandez R, Weaver M, Clarke L, Rehder C.
Mol Genet Metab. 2023 Oct 26:107715. doi: 10.1016/j.ymgme.2023.107715. Online ahead of print.
PMID: 37907381