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UNC Genetics PublicationsDepartment of Genetics faculty, postdocs, students and collaborators published 17 papers during March 27th – April 9th, 2022.

 

Establishing the Medical Actionability of Genomic Variants. 

Goddard KAB, Lee K, Buchanan AH, Powell BC, Hunter JE.

Annu Rev Genomics Hum Genet. 2022 Apr 1. doi: 10.1146/annurev-genom-111021-032401. Online ahead of print.

PMID: 35363504 Review.

 

Regional Differences in Mucociliary Clearance in the Upper and Lower Airways. 

Rogers TD, Button B, Kelada SNP, Ostrowski LE, Livraghi-Butrico A, Gutay MI, Esther CR Jr, Grubb BR.

Front Physiol. 2022 Mar 9;13:842592. doi: 10.3389/fphys.2022.842592. eCollection 2022.

PMID: 35356083 Free PMC article.

 

Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci. 

Yin X, Chan LS, Bose D, Jackson AU, VandeHaar P, Locke AE, Fuchsberger C, Stringham HM, Welch R, Yu K, Fernandes Silva L, Service SK, Zhang D, Hector EC, Young E, Ganel L, Das I, Abel H, Erdos MR, Bonnycastle LL, Kuusisto J, Stitziel NO, Hall IM, Wagner GR; FinnGen, Kang J, Morrison J, Burant CF, Collins FS, Ripatti S, Palotie A, Freimer NB, Mohlke KL, Scott LJ, Wen X, Fauman EB, Laakso M, Boehnke M.

Nat Commun. 2022 Mar 28;13(1):1644. doi: 10.1038/s41467-022-29143-5.

PMID: 35347128

 

ClinGen’s Pediatric Actionability Working Group: Clinical actionability of secondary findings from genome-scale sequencing in children and adolescents. 

Hunter JE, Jenkins CL, Bulkley JE, Gilmore MJ, Lee K, Pak CM, Wallace KE, Buchanan AH, Foreman AKM, Freed AS, Goehringer S, Manickam K, Meeks NJL, Ramos EM, Shah N, Steiner RD, Subramanian SL, Trotter T, Webber EM, Williams MS, Goddard KAB, Powell BC; ClinGen.

Genet Med. 2022 Mar 24:S1098-3600(22)00677-3. doi: 10.1016/j.gim.2022.02.019. Online ahead of print.

PMID: 35341655

 

Characterizing mood disorders in the AFFECT study: a large, longitudinal, and phenotypically rich genetic cohort in the US. 

Dalby M, Vitezic M, Plath N, Hammer-Helmich L, Jiang Y, Tian C, Dhamija D, Wilson CH, Hinds D; 23andMe Research Team, Sullivan PF, Buckholtz JW, Smoller JW.

Transl Psychiatry. 2022 Mar 25;12(1):121. doi: 10.1038/s41398-022-01877-2.

PMID: 35338122

 

Rapid idiosyncratic mechanisms of clinical resistance to KRAS G12C inhibition. 

Tsai YS, Woodcock MG, Azam SH, Thorne LB, Kanchi KL, Parker JS, Vincent BG, Pecot CV.

J Clin Invest. 2022 Feb 15;132(4):e155523. doi: 10.1172/JCI155523.

PMID: 34990404 Free PMC article.

 

A greedy regression algorithm with coarse weights offers novel advantages. 

Jeffries CD, Ford JR, Tilson JL, Perkins DO, Bost DM, Filer DL, Wilhelmsen KC.

Sci Rep. 2022 Mar 31;12(1):5440. doi: 10.1038/s41598-022-09415-2.

PMID: 35361850

 

A point mutation in human coilin prevents Cajal body formation. 

Basello DA, Matera AG, Staněk D.

J Cell Sci. 2022 Mar 31:jcs.259587. doi: 10.1242/jcs.259587. Online ahead of print.

PMID: 35356988

 

Common variants contribute to intrinsic human brain functional networks. 

Zhao B, Li T, Smith SM, Xiong D, Wang X, Yang Y, Luo T, Zhu Z, Shan Y, Matoba N, Sun Q, Yang Y, Hauberg ME, Bendl J, Fullard JF, Roussos P, Lin W, Li Y, Stein JL, Zhu H.

Nat Genet. 2022 Apr 7. doi: 10.1038/s41588-022-01039-6. Online ahead of print.

PMID: 35393594

 

Identification of genetic effects underlying type 2 diabetes in South Asian and European populations. 

Loh M, Zhang W, Ng HK, Schmid K, Lamri A, Tong L, Ahmad M, Lee JJ, Ng MCY, Petty LE, Spracklen CN, Takeuchi F, Islam MT, Jasmine F, Kasturiratne A, Kibriya M, Mohlke KL, Paré G, Prasad G, Shahriar M, Chee ML, de Silva HJ, Engert JC, Gerstein HC, Mani KR, Sabanayagam C, Vujkovic M, Wickremasinghe AR, Wong TY, Yajnik CS, Yusuf S, Ahsan H, Bharadwaj D, Anand SS, Below JE, Boehnke M, Bowden DW, Chandak GR, Cheng CY, Kato N, Mahajan A, Sim X, McCarthy MI, Morris AP, Kooner JS, Saleheen D, Chambers JC.

Commun Biol. 2022 Apr 7;5(1):329. doi: 10.1038/s42003-022-03248-5.

PMID: 35393509

 

Genetic variants associated with longitudinal changes in brain structure across the lifespan. 

Brouwer RM, Klein M, Grasby KL, Schnack HG, Jahanshad N, Teeuw J, Thomopoulos SI, Sprooten E, Franz CE, Gogtay N, Kremen WS, Panizzon MS, Olde Loohuis LM, Whelan CD, Aghajani M, Alloza C, Alnæs D, Artiges E, Ayesa-Arriola R, Barker GJ, Bastin ME, Blok E, Bøen E, Breukelaar IA, Bright JK, Buimer EEL, Bülow R, Cannon DM, Ciufolini S, Crossley NA, Damatac CG, Dazzan P, de Mol CL, de Zwarte SMC, Desrivières S, Díaz-Caneja CM, Doan NT, Dohm K, Fröhner JH, Goltermann J, Grigis A, Grotegerd D, Han LKM, Harris MA, Hartman CA, Heany SJ, Heindel W, Heslenfeld DJ, Hohmann S, Ittermann B, Jansen PR, Janssen J, Jia T, Jiang J, Jockwitz C, Karali T, Keeser D, Koevoets MGJC, Lenroot RK, Malchow B, Mandl RCW, Medel V, Meinert S, Morgan CA, Mühleisen TW, Nabulsi L, Opel N, de la Foz VO, Overs BJ, Paillère Martinot ML, Redlich R, Marques TR, Repple J, Roberts G, Roshchupkin GV, Setiaman N, Shumskaya E, Stein F, Sudre G, Takahashi S, Thalamuthu A, Tordesillas-Gutiérrez D, van der Lugt A, van Haren NEM, Wardlaw JM, Wen W, Westeneng HJ, Wittfeld K, Zhu AH, Zugman A, Armstrong NJ, Bonfiglio G, Bralten J, Dalvie S, Davies G, Di Forti M, Ding L, Donohoe G, Forstner AJ, Gonzalez-Peñas J, Guimaraes JPOFT, Homuth G, Hottenga JJ, Knol MJ, Kwok JBJ, Le Hellard S, Mather KA, Milaneschi Y, Morris DW, Nöthen MM, Papiol S, Rietschel M, Santoro ML, Steen VM, Stein JL, Streit F, Tankard RM, Teumer A, van ‘t Ent D, van der Meer D, van Eijk KR, Vassos E, Vázquez-Bourgon J, Witt SH; IMAGEN Consortium, Adams HHH, Agartz I, Ames D, Amunts K, Andreassen OA, Arango C, Banaschewski T, Baune BT, Belangero SI, Bokde ALW, Boomsma DI, Bressan RA, Brodaty H, Buitelaar JK, Cahn W, Caspers S, Cichon S, Crespo-Facorro B, Cox SR, Dannlowski U, Elvsåshagen T, Espeseth T, Falkai PG, Fisher SE, Flor H, Fullerton JM, Garavan H, Gowland PA, Grabe HJ, Hahn T, Heinz A, Hillegers M, Hoare J, Hoekstra PJ, Ikram MA, Jackowski AP, Jansen A, Jönsson EG, Kahn RS, Kircher T, Korgaonkar MS, Krug A, Lemaitre H, Malt UF, Martinot JL, McDonald C, Mitchell PB, Muetzel RL, Murray RM, Nees F, Nenadić I, Oosterlaan J, Ophoff RA, Pan PM, Penninx BWJH, Poustka L, Sachdev PS, Salum GA, Schofield PR, Schumann G, Shaw P, Sim K, Smolka MN, Stein DJ, Trollor JN, van den Berg LH, Veldink JH, Walter H, Westlye LT, Whelan R, White T, Wright MJ, Medland SE, Franke B, Thompson PM, Hulshoff Pol HE.

Nat Neurosci. 2022 Apr;25(4):421-432. doi: 10.1038/s41593-022-01042-4. Epub 2022 Apr 5.

PMID: 35383335

 

Transcriptome-wide association study for postpartum depression implicates altered B-cell activation and insulin resistance. 

Guintivano J, Aberg KA, Clark SL, Rubinow DR, Sullivan PF, Meltzer-Brody S, van den Oord EJCG.

Mol Psychiatry. 2022 Apr 1. doi: 10.1038/s41380-022-01525-7. Online ahead of print.

PMID: 35365803

 

Patient-Derived Triple-Negative Breast Cancer Organoids Provide Robust Model Systems That Recapitulate Tumor Intrinsic Characteristics. 

Bhatia S, Kramer M, Russo S, Naik P, Arun G, Brophy K, Andrews P, Fan C, Perou CM, Preall J, Ha T, Plenker D, Tuveson DA, Rishi A, Wilkinson JE, McCombie WR, Kostroff K, Spector DL.

Cancer Res. 2022 Apr 1;82(7):1174-1192. doi: 10.1158/0008-5472.CAN-21-2807.

PMID: 35180770

 

Genetic Landscape of the ACE2 Coronavirus Receptor. 

Yang Z, MacDonald-Dunlop E, Chen J, Zhai R, Li T, Richmond A, Klaric L, Pirastu N, Ning Z, Zheng C, Wang Y, Huang T, He Y, Guo H, Ying K, Gustafsson S, Prins B, Ramisch A, Dermitzakis ET, Png G, Eriksson N, Haessler J, Hu X, Zanetti D, Boutin T, Hwang SJ, Wheeler E, Pietzner M, Raffield LM, Kalnapenkis A, Peters JE, Viñuela A, Gilly A, Elmståhl S, Dedoussis G, Petrie JR, Polašek O, Folkersen L, Chen Y, Yao C, Võsa U, Pairo-Castineira E, Clohisey S, Bretherick AD, Rawlik K, Esko T, Enroth S, Johansson Å, Gyllensten U, Langenberg C, Levy D, Hayward C, Assimes TL, Kooperberg C, Manichaikul AW, Siegbahn A, Wallentin L, Lind L, Zeggini E, Schwenk JM, Butterworth AS, Michaëlsson K, Pawitan Y, Joshi PK, Baillie JK, Mälarstig A, Reiner AP, Wilson JF, Shen X; GenOMICC Consortium and the IMI-DIRECT Consortium.

Circulation. 2022 Apr 7. doi: 10.1161/CIRCULATIONAHA.121.057888. Online ahead of print.

PMID: 35387486

 

Mendelian randomization supports bidirectional causality between telomere length and clonal hematopoiesis of indeterminate potential. 

Nakao T, Bick AG, Taub MA, Zekavat SM, Uddin MM, Niroula A, Carty CL, Lane J, Honigberg MC, Weinstock JS, Pampana A, Gibson CJ, Griffin GK, Clarke SL, Bhattacharya R, Assimes TL, Emery LS, Stilp AM, Wong Q, Broome J, Laurie CA, Khan AT, Smith AV, Blackwell TW, Codd V, Nelson CP, Yoneda ZT, Peralta JM, Bowden DW, Irvin MR, Boorgula M, Zhao W, Yanek LR, Wiggins KL, Hixson JE, Gu CC, Peloso GM, Roden DM, Reupena MS, Hwu CM, DeMeo DL, North KE, Kelly S, Musani SK, Bis JC, Lloyd-Jones DM, Johnsen JM, Preuss M, Tracy RP, Peyser PA, Qiao D, Desai P, Curran JE, Freedman BI, Tiwari HK, Chavan S, Smith JA, Smith NL, Kelly TN, Hidalgo B, Cupples LA, Weeks DE, Hawley NL, Minster RL; Samoan Obesity, Lifestyle and Genetic Adaptations Study (OLaGA) Group, Deka R, Naseri TT, de Las Fuentes L, Raffield LM, Morrison AC, Vries PS, Ballantyne CM, Kenny EE, Rich SS, Whitsel EA, Cho MH, Shoemaker MB, Pace BS, Blangero J, Palmer ND, Mitchell BD, Shuldiner AR, Barnes KC, Redline S, Kardia SLR, Abecasis GR, Becker LC, Heckbert SR, He J, Post W, Arnett DK, Vasan RS, Darbar D, Weiss ST, McGarvey ST, de Andrade M, Chen YI, Kaplan RC, Meyers DA, Custer BS, Correa A, Psaty BM, Fornage M, Manson JE, Boerwinkle E, Konkle BA, Loos RJF, Rotter JI, Silverman EK, Kooperberg C, Danesh J, Samani NJ, Jaiswal S, Libby P, Ellinor PT, Pankratz N, Ebert BL, Reiner AP, Mathias RA, Do R; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Natarajan P.

Sci Adv. 2022 Apr 8;8(14):eabl6579. doi: 10.1126/sciadv.abl6579. Epub 2022 Apr 6.

PMID: 35385311

 

Airpart: Interpretable statistical models for analyzing allelic imbalance in single-cell datasets. 

Mu W, Sarkar H, Srivastava A, Choi K, Patro R, Love MI.

Bioinformatics. 2022 Apr 6:btac212. doi: 10.1093/bioinformatics/btac212. Online ahead of print.

PMID: 35385108

 

Developmental pyrethroid exposure and age influence phenotypes in a Chd8 haploinsufficient autism mouse model. 

Jiménez JA, Simon JM, Hu W, Moy SS, Harper KM, Liu CW, Lu K, Zylka MJ.

Sci Rep. 2022 Apr 1;12(1):5555. doi: 10.1038/s41598-022-09533-x.

PMID: 35365720 Free PMC article.