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UNC Genetics PublicationsDepartment of Genetics faculty, postdocs, students and collaborators published 18 papers during October 11-31, 2020.

 

 

Survival, Pathologic Response, and Genomics in CALGB 40601 (Alliance), a Neoadjuvant Phase III Trial of Paclitaxel-Trastuzumab With or Without Lapatinib in HER2-Positive Breast Cancer. 

Fernandez-Martinez A, Krop IE, Hillman DW, Polley MY, Parker JS, Huebner L, Hoadley KA, Shepherd J, Tolaney S, Henry NL, Dang C, Harris L, Berry D, Hahn O, Hudis C, Winer E, Partridge A, Perou CM, Carey LA.

J Clin Oncol. 2020 Oct 23:JCO2001276. doi: 10.1200/JCO.20.01276. Online ahead of print.

PMID: 33095682

 

Cas9 gene therapy for Angelman syndrome traps Ube3a-ATS long non-coding RNA. 

Wolter JM, Mao H, Fragola G, Simon JM, Krantz JL, Bazick HO, Oztemiz B, Stein JL, Zylka MJ.

Nature. 2020 Oct 21. doi: 10.1038/s41586-020-2835-2. Online ahead of print.

PMID: 33087932

 

Focused Ultrasound for Immunomodulation of the Tumor Microenvironment. 

Joiner JB, Pylayeva-Gupta Y, Dayton PA.

J Immunol. 2020 Nov 1;205(9):2327-2341. doi: 10.4049/jimmunol.1901430.

PMID: 33077668

 

Inherited causes of clonal haematopoiesis in 97,691 whole genomes. 

Bick AG, Weinstock JS, Nandakumar SK, Fulco CP, Bao EL, Zekavat SM, Szeto MD, Liao X, Leventhal MJ, Nasser J, Chang K, Laurie C, Burugula BB, Gibson CJ, Lin AE, Taub MA, Aguet F, Ardlie K, Mitchell BD, Barnes KC, Moscati A, Fornage M, Redline S, Psaty BM, Silverman EK, Weiss ST, Palmer ND, Vasan RS, Burchard EG, Kardia SLR, He J, Kaplan RC, Smith NL, Arnett DK, Schwartz DA, Correa A, de Andrade M, Guo X, Konkle BA, Custer B, Peralta JM, Gui H, Meyers DA, McGarvey ST, Chen IY, Shoemaker MB, Peyser PA, Broome JG, Gogarten SM, Wang FF, Wong Q, Montasser ME, Daya M, Kenny EE, North KE, Launer LJ, Cade BE, Bis JC, Cho MH, Lasky-Su J, Bowden DW, Cupples LA, Mak ACY, Becker LC, Smith JA, Kelly TN, Aslibekyan S, Heckbert SR, Tiwari HK, Yang IV, Heit JA, Lubitz SA, Johnsen JM, Curran JE, Wenzel SE, Weeks DE, Rao DC, Darbar D, Moon JY, Tracy RP, Buth EJ, Rafaels N, Loos RJF, Durda P, Liu Y, Hou L, Lee J, Kachroo P, Freedman BI, Levy D, Bielak LF, Hixson JE, Floyd JS, Whitsel EA, Ellinor PT, Irvin MR, Fingerlin TE, Raffield LM, Armasu SM, Wheeler MM, Sabino EC, Blangero J, Williams LK, Levy BD, Sheu WH, Roden DM, Boerwinkle E, Manson JE, Mathias RA, Desai P, Taylor KD, Johnson AD; NHLBI Trans-Omics for Precision Medicine Consortium, Auer PL, Kooperberg C, Laurie CC, Blackwell TW, Smith AV, Zhao H, Lange E, Lange L, Rich SS, Rotter JI, Wilson JG, Scheet P, Kitzman JO, Lander ES, Engreitz JM, Ebert BL, Reiner AP, Jaiswal S, Abecasis G, Sankaran VG, Kathiresan S, Natarajan P.

Nature. 2020 Oct 14. doi: 10.1038/s41586-020-2819-2. Online ahead of print.

PMID: 33057201

 

Cell-type-specific 3D epigenomes in the developing human cortex. 

Song M, Pebworth MP, Yang X, Abnousi A, Fan C, Wen J, Rosen JD, Choudhary MNK, Cui X, Jones IR, Bergenholtz S, Eze UC, Juric I, Li B, Maliskova L, Lee J, Liu W, Pollen AA, Li Y, Wang T, Hu M, Kriegstein AR, Shen Y.

Nature. 2020 Oct 14. doi: 10.1038/s41586-020-2825-4. Online ahead of print.

PMID: 33057195

 

Genetic variant effects on gene expression in human pancreatic islets and their implications for T2D. 

Viñuela A, Varshney A, van de Bunt M, Prasad RB, Asplund O, Bennett A, Boehnke M, Brown AA, Erdos MR, Fadista J, Hansson O, Hatem G, Howald C, Iyengar AK, Johnson P, Krus U, MacDonald PE, Mahajan A, Manning Fox JE, Narisu N, Nylander V, Orchard P, Oskolkov N, Panousis NI, Payne A, Stitzel ML, Vadlamudi S, Welch R, Collins FS, Mohlke KL, Gloyn AL, Scott LJ, Dermitzakis ET, Groop L, Parker SCJ, McCarthy MI.

Nat Commun. 2020 Sep 30;11(1):4912. doi: 10.1038/s41467-020-18581-8.

PMID: 32999275

 

Integrative genomics identifies a convergent molecular subtype that links epigenomic with transcriptomic differences in autism. 

Ramaswami G, Won H, Gandal MJ, Haney J, Wang JC, Wong CCY, Sun W, Prabhakar S, Mill J, Geschwind DH.

Nat Commun. 2020 Sep 25;11(1):4873. doi: 10.1038/s41467-020-18526-1.

PMID: 32978376

 

Genetic correlations and genome-wide associations of cortical structure in general population samples of 22,824 adults. 

Hofer E, Roshchupkin GV, Adams HHH, Knol MJ, Lin H, Li S, Zare H, Ahmad S, Armstrong NJ, Satizabal CL, Bernard M, Bis JC, Gillespie NA, Luciano M, Mishra A, Scholz M, Teumer A, Xia R, Jian X, Mosley TH, Saba Y, Pirpamer L, Seiler S, Becker JT, Carmichael O, Rotter JI, Psaty BM, Lopez OL, Amin N, van der Lee SJ, Yang Q, Himali JJ, Maillard P, Beiser AS, DeCarli C, Karama S, Lewis L, Harris M, Bastin ME, Deary IJ, Veronica Witte A, Beyer F, Loeffler M, Mather KA, Schofield PR, Thalamuthu A, Kwok JB, Wright MJ, Ames D, Trollor J, Jiang J, Brodaty H, Wen W, Vernooij MW, Hofman A, Uitterlinden AG, Niessen WJ, Wittfeld K, Bülow R, Völker U, Pausova Z, Bruce Pike G, Maingault S, Crivello F, Tzourio C, Amouyel P, Mazoyer B, Neale MC, Franz CE, Lyons MJ, Panizzon MS, Andreassen OA, Dale AM, Logue M, Grasby KL, Jahanshad N, Painter JN, Colodro-Conde L, Bralten J, Hibar DP, Lind PA, Pizzagalli F, Stein JL, Thompson PM, Medland SE; ENIGMA consortium, Sachdev PS, Kremen WS, Wardlaw JM, Villringer A, van Duijn CM, Grabe HJ, Longstreth WT Jr, Fornage M, Paus T, Debette S, Arfan Ikram M, Schmidt H, Schmidt R, Seshadri S.

Nat Commun. 2020 Sep 22;11(1):4796. doi: 10.1038/s41467-020-18367-y.

PMID: 32963231

 

New insights into immunomodulation via overexpressing lipoic acid synthase as a therapeutic potential to reduce atherosclerosis. 

Tian S, Nakamura J, Hiller S, Simington S, Holley DW, Mota R, Willis MS, Bultman SJ, Luft JC, DeSimone JM, Jia Z, Maeda N, Yi X.

Vascul Pharmacol. 2020 Oct-Nov;133-134:106777. doi: 10.1016/j.vph.2020.106777. Epub 2020 Aug 1.

PMID: 32750408

 

Multi-omics analyses of radiation survivors identify radioprotective microbes and metabolites. 

Guo H, Chou WC, Lai Y, Liang K, Tam JW, Brickey WJ, Chen L, Montgomery ND, Li X, Bohannon LM, Sung AD, Chao NJ, Peled JU, Gomes ALC, van den Brink MRM, French MJ, Macintyre AN, Sempowski GD, Tan X, Sartor RB, Lu K, Ting JPY.

Science. 2020 Oct 30;370(6516):eaay9097. doi: 10.1126/science.aay9097.

PMID: 33122357

 

Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies. 

Amendola LM, Muenzen K, Biesecker LG, Bowling KM, Cooper GM, Dorschner MO, Driscoll C, Foreman AKM, Golden-Grant K, Greally JM, Hindorff L, Kanavy D, Jobanputra V, Johnston JJ, Kenny EE, McNulty S, Murali P, Ou J, Powell BC, Rehm HL, Rolf B, Roman TS, Van Ziffle J, Guha S, Abhyankar A, Crosslin D, Venner E, Yuan B, Zouk H; CSER Sequencing and Diagnostic Yield working group, Jarvik GP.

Am J Hum Genet. 2020 Oct 15:S0002-9297(20)30356-6. doi: 10.1016/j.ajhg.2020.09.011. Online ahead of print.

PMID: 33108757

 

Modeling epistasis in mice and yeast using the proportion of two or more distinct genetic backgrounds: Evidence for “polygenic epistasis”. 

Rau CD, Gonzales NM, Bloom JS, Park D, Ayroles J, Palmer AA, Lusis AJ, Zaitlen N.

PLoS Genet. 2020 Oct 26;16(10):e1009165. doi: 10.1371/journal.pgen.1009165. Online ahead of print.

PMID: 33104702

 

Evaluating brain structure traits as endophenotypes using polygenicity and discoverability. 

Matoba N, Love MI, Stein JL.

Hum Brain Mapp. 2020 Oct 24. doi: 10.1002/hbm.25257. Online ahead of print.

PMID: 33098356

 

AcrDB: a database of anti-CRISPR operons in prokaryotes and viruses. 

Huang L, Yang B, Yi H, Asif A, Wang J, Lithgow T, Zhang H, Minhas FUAA, Yin Y.

Nucleic Acids Res. 2020 Oct 17:gkaa857. doi: 10.1093/nar/gkaa857. Online ahead of print.

PMID: 33068435

 

Characterization of systemic genomic instability in budding yeast. 

Sampaio NMV, Ajith VP, Watson RA, Heasley LR, Chakraborty P, Rodrigues-Prause A, Malc EP, Mieczkowski PA, Nishant KT, Argueso JL.

Proc Natl Acad Sci U S A. 2020 Oct 26:202010303. doi: 10.1073/pnas.2010303117. Online ahead of print.

PMID: 33106418

 

Adaptation and selection shape clonal evolution of tumors during residual disease and recurrence. 

Walens A, Lin J, Damrauer JS, McKinney B, Lupo R, Newcomb R, Fox DB, Mabe NW, Gresham J, Sheng Z, Sibley AB, De Buysscher T, Kelkar H, Mieczkowski PA, Owzar K, Alvarez JV.

Nat Commun. 2020 Oct 6;11(1):5017. doi: 10.1038/s41467-020-18730-z.

PMID: 33024122

 

Content and Performance of the MiniMUGA Genotyping Array, a New Tool To Improve Rigor and Reproducibility in Mouse Research. 

Sigmon JS, Blanchard MW, Baric RS, Bell TA, Brennan J, Brockmann GA, Burks AW, Calabrese JM, Caron KM, Cheney RE, Ciavatta D, Conlon F, Darr DB, Faber J, Franklin C, Gershon TR, Gralinski L, Gu B, Gaines CH, Hagan RS, Heimsath EG, Heise MT, Hock P, Ideraabdullah F, Jennette JC, Kafri T, Kashfeen A, Kulis M, Kumar V, Linnertz C, Livraghi-Butrico A, Lloyd KCK, Lutz C, Lynch RM, Magnuson T, Matsushima GK, McMullan R, Miller DR, Mohlke KL, Moy SS, Murphy C, Najarian M, O’Brien L, Palmer AA, Philpot BD, Randell SH, Reinholdt L, Ren Y, Rockwood S, Rogala AR, Saraswatula A, Sassetti CM, Schisler JC, Schoenrock SA, Shaw GD, Shorter JR, Smith CM, St Pierre CL, Tarantino LM, Threadgill DW, Valdar W, Vilen BJ, Wardwell K, Whitmire JK, Williams L, Zylka MJ, Ferris MT, McMillan L, Pardo-Manuel de Villena F.

Genetics. 2020 Oct 16:genetics.303596.2020. doi: 10.1534/genetics.120.303596. Online ahead of print.

PMID: 33067325

 

Newborn Screening and Long-term Outcomes. 

Powell CM.

Pediatrics. 2020 Oct 13:e2020023663. doi: 10.1542/peds.2020-023663. Online ahead of print.

PMID: 33051225