Skip to main content

UNC Genetics PublicationsDepartment of Genetics Publications for April 18 – May 1, 2021

 

Department of Genetics faculty, postdocs, students and collaborators published thirteen papers during April 18 – May 1, 2021.

 

Radiation-related genomic profile of papillary thyroid cancer after the Chernobyl accident. 

Morton LM, Karyadi DM, Stewart C, Bogdanova TI, Dawson ET, Steinberg MK, Dai J, Hartley SW, Schonfeld SJ, Sampson JN, Maruvka Y, Kapoor V, Ramsden DA, Carvajal-Garcia J, Perou CM, Parker JS, Krznaric M, Yeager M, Boland JF, Hutchinson A, Hicks BD, Dagnall CL, Gastier-Foster JM, Bowen J, Lee O, Machiela MJ, Cahoon EK, Brenner AV, Mabuchi K, Drozdovitch V, Masiuk S, Chepurny M, Zurnadzhy LY, Hatch M, Berrington de Gonzalez A, Thomas GA, Tronko MD, Getz G, Chanock SJ.

Science. 2021 Apr 22:eabg2538. doi: 10.1126/science.abg2538. Online ahead of print.

PMID: 33888599

 

Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program. 

Hu Y, Stilp AM, McHugh CP, Rao S, Jai D, Zheng X, Lane J, Méric de Bellefon S, Raffield LM, Chen MH, Yanek LR, Wheeler M, Yao Y, Ren C, Broome J, Moon JY, de Vries PS, Hobbs BD, Sun Q, Surendran P, Brody JA, Blackwell TW, Choquet H, Ryan K, Duggirala R, Heard-Costa N, Wang Z, Chami N, Preuss MH, Min N, Ekunwe L, Lange LA, Cushman M, Faraday N, Curran JE, Almasy L, Kundu K, Smith AV, Gabriel S, Rotter JI, Fornage M, Lloyd-Jones DM, Vasan RS, Smith NL, North KE, Boerwinkle E, Becker LC, Lewis JP, Abecasis GR, Hou L, O’Connell JR, Morrison AC, Beaty TH, Kaplan R, Correa A, Blangero J, Jorgenson E, Psaty BM, Kooperberg C, Walton RT, Kleinstiver BP, Tang H, Loos RJF, Soranzo N, Butterworth AS, Nickerson D, Rich SS, Mitchell BD, Johnson AD, Auer PL, Li Y, Mathias RA, Lettre G, Pankratz N, Laurie CC, Laurie CA, Bauer DE, Conomos MP, Reiner AP; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium.

Am J Hum Genet. 2021 Apr 16:S0002-9297(21)00134-8. doi: 10.1016/j.ajhg.2021.04.003. Online ahead of print.

PMID: 33887194

 

From base pair to brain. 

Matoba N, Stein JL.

Nat Neurosci. 2021 Apr 19. doi: 10.1038/s41593-021-00852-2. Online ahead of print.

PMID: 33875895

 

MRLocus: Identifying causal genes mediating a trait through Bayesian estimation of allelic heterogeneity. 

Zhu A, Matoba N, Wilson EP, Tapia AL, Li Y, Ibrahim JG, Stein JL, Love MI.

PLoS Genet. 2021 Apr 19;17(4):e1009455. doi: 10.1371/journal.pgen.1009455. Online ahead of print.

PMID: 33872308

 

Cross-oncopanel study reveals high sensitivity and accuracy with overall analytical performance depending on genomic regions. 

Gong B, Li D, Kusko R, Novoradovskaya N, Zhang Y, Wang S, Pabón-Peña C, Zhang Z, Lai K, Cai W, LoCoco JS, Lader E, Richmond TA, Mittal VK, Liu LC, Johann DJ Jr, Willey JC, Bushel PR, Yu Y, Xu C, Chen G, Burgess D, Cawley S, Giorda K, Haseley N, Qiu F, Wilkins K, Arib H, Attwooll C, Babson K, Bao L, Bao W, Lucas AB, Best H, Bhandari A, Bisgin H, Blackburn J, Blomquist TM, Boardman L, Burgher B, Butler DJ, Chang CJ, Chaubey A, Chen T, Chierici M, Chin CR, Close D, Conroy J, Coleman JC, Craig DJ, Crawford E, Del Pozo A, Deveson IW, Duncan D, Eterovic AK, Fan X, Foox J, Furlanello C, Ghosal A, Glenn S, Guan M, Haag C, Hang X, Happe S, Hennigan B, Hipp J, Hong H, Horvath K, Hu J, Hung LY, Jarosz M, Kerkhof J, Kipp B, Kreil DP, Łabaj P, Lapunzina P, Li P, Li QZ, Li W, Li Z, Liang Y, Liu S, Liu Z, Ma C, Marella N, Martín-Arenas R, Megherbi DB, Meng Q, Mieczkowski PA, Morrison T, Muzny D, Ning B, Parsons BL, Paweletz CP, Pirooznia M, Qu W, Raymond A, Rindler P, Ringler R, Sadikovic B, Scherer A, Schulze E, Sebra R, Shaknovich R, Shi Q, Shi T, Silla-Castro JC, Smith M, López MS, Song P, Stetson D, Strahl M, Stuart A, Supplee J, Szankasi P, Tan H, Tang LY, Tao Y, Thakkar S, Thierry-Mieg D, Thierry-Mieg J, Thodima VJ, Thomas D, Tichý B, Tom N, Garcia EV, Verma S, Walker K, Wang C, Wang J, Wang Y, Wen Z, Wirta V, Wu L, Xiao C, Xiao W, Xu S, Yang M, Ying J, Yip SH, Zhang G, Zhang S, Zhao M, Zheng Y, Zhou X, Mason CE, Mercer T, Tong W, Shi L, Jones W, Xu J.

Genome Biol. 2021 Apr 16;22(1):109. doi: 10.1186/s13059-021-02315-0.

PMID: 33863344

 

FGL1 as a modulator of plasma D-dimer levels: exome-wide marker analysis of plasma tPA, PAI-1 and D-dimer. 

Thibord F, Song C, Pattee J, Rodriguez BAT, Chen MH, O’Donnell CJ, Kleber ME, Delgado GE, Guo X, Yao J, Taylor KD, Ozel AB, Brody JA, McKnight B, Gyorgy B, Simonsick E, Leonard HL, Carrasquilla GD, Guindo-Martinez M, Silveira A, Temprano-Sagrera G, Yanek LR, Becker DM, Mathias RA, Becker LC, Raffield LM, Kilpeläinen TO, Grarup N, Pedersen O, Hansen T, Linneberg A, Hamsten A, Watkins H, Sabater-Lleal M, Nalls MA, Trégouët DA, Morange PE, Psaty BM, Tracy RP, Smith NL, Desch KC, Cushman M, Rotter JI, de Vries PS, Pankratz ND, Folsom AR, Morrison AC, März W, Tang W, Johnson AD.

J Thromb Haemost. 2021 Apr 20. doi: 10.1111/jth.15345. Online ahead of print.

PMID: 33876560

 

Identification of Novel Candidate Genes and Variants for Hearing Loss and Temporal Bone Anomalies. 

Santos-Cortez RLP, Yarza TKL, Bootpetch TC, Tantoco MLC, Mohlke KL, Cruz TLG, Chiong Perez ME, Chan AL, Lee NR, Tobias-Grasso CAM, Reyes-Quintos MRT, Cutiongco-de la Paz EM, Chiong CM.

Genes (Basel). 2021 Apr 13;12(4):566. doi: 10.3390/genes12040566.

PMID: 33924653

 

Epigenetically mediated electrocardiographic manifestations of sub-chronic exposures to ambient particulate matter air pollution in the Women’s Health Initiative and Atherosclerosis Risk in Communities Study. 

Gondalia R, Baldassari A, Holliday KM, Justice AE, Stewart JD, Liao D, Yanosky JD, Engel SM, Sheps D, Jordahl KM, Bhatti P, Horvath S, Assimes TL, Demerath EW, Guan W, Fornage M, Bressler J, North KE, Conneely KN, Li Y, Hou L, Baccarelli AA, Whitsel EA.

Environ Res. 2021 Apr 22:111211. doi: 10.1016/j.envres.2021.111211. Online ahead of print.

PMID: 33895111

 

Integration of Evidence across Human and Model Organism Studies: A Meeting Report. 

Palmer RHC, Johnson EC, Won H, Polimanti R, Kapoor M, Chitre A, Bogue MA, Benca-Bachman CE, Parker CC, Ursu O, Verma A, Reynolds T, Ernst J, Bray M, Kwon SB, Lai D, Quach BC, Gaddis NC, Saba L, Chen H, Hawrylycz M, Zhang S, Zhou Y, Mahaffey S, Fischer C, Sanchez-Roige S, Bandrowski A, Qing L, Shen L, Philip V, Gelernter J, Bierut LJ, Hancock DB, Edenberg HJ, Johnson EO, Nestler EJ, Barr PB, Prins P, Smith DJ, Akbarian S, Thorgeirsson T, Walton D, Baker E, Jacobson D, Palmer AA, Miles M, Chesler EJ, Emerson J, Agrawal A, Martone M, Williams RW.

Genes Brain Behav. 2021 Apr 23:e12738. doi: 10.1111/gbb.12738. Online ahead of print.

PMID: 33893716

 

Correlation of Regulatory T Cell Numbers with Disease Tolerance upon Virus Infection. 

Graham JB, Swarts JL, Edwards KR, Voss KM, Green R, Jeng S, Miller DR, Mooney MA, McWeeney SK, Ferris MT, Pardo-Manuel de Villena F, Gale M Jr, Lund JM.

Immunohorizons. 2021 Apr 23;5(4):157-169. doi: 10.4049/immunohorizons.2100009.

PMID: 33893179

 

Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG). 

Rehder C, Bean LJH, Bick D, Chao E, Chung W, Das S, O’Daniel J, Rehm H, Shashi V, Vincent LM; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2021 Apr 29. doi: 10.1038/s41436-021-01139-4. Online ahead of print.

PMID: 33927380

 

Application of a framework to guide genetic testing communication across clinical indications. 

Hallquist MLG, Tricou EP, Ormond KE, Savatt JM, Coughlin CR 2nd, Faucett WA, Hercher L, Levy HP, O’Daniel JM, Peay HL, Stosic M, Smith M, Uhlmann WR, Wand H, Wain KE, Buchanan AH.

Genome Med. 2021 Apr 29;13(1):71. doi: 10.1186/s13073-021-00887-x.

PMID: 33926532

 

The awesome power of histone genetics. 

Nevil M, Duronio RJ.

Mol Cell. 2021 Apr 15;81(8):1593-1595. doi: 10.1016/j.molcel.2021.03.023.

PMID: 33861947