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UNC Genetics PublicationsDepartment of Genetics faculty, postdocs, students and collaborators published 10 papers during June 4th – 17th, 2023.

 

Genome-wide association study and functional characterization identifies candidate genes for insulin-stimulated glucose uptake. 

Williamson A, Norris DM, Yin X, Broadaway KA, Moxley AH, Vadlamudi S, Wilson EP, Jackson AU, Ahuja V, Andersen MK, Arzumanyan Z, Bonnycastle LL, Bornstein SR, Bretschneider MP, Buchanan TA, Chang YC, Chuang LM, Chung RH, Clausen TD, Damm P, Delgado GE, de Mello VD, Dupuis J, Dwivedi OP, Erdos MR, Silva LF, Frayling TM, Gieger C, Goodarzi MO, Guo X, Gustafsson S, Hakaste L, Hammar U, Hatem G, Herrmann S, Højlund K, Horn K, Hsueh WA, Hung YJ, Hwu CM, Jonsson A, Kårhus LL, Kleber ME, Kovacs P, Lakka TA, Lauzon M, Lee IT, Lindgren CM, Lindström J, Linneberg A, Liu CT, Luan J, Aly DM, Mathiesen E, Moissl AP, Morris AP, Narisu N, Perakakis N, Peters A, Prasad RB, Rodionov RN, Roll K, Rundsten CF, Sarnowski C, Savonen K, Scholz M, Sharma S, Stinson SE, Suleman S, Tan J, Taylor KD, Uusitupa M, Vistisen D, Witte DR, Walther R, Wu P, Xiang AH, Zethelius B; Meta-Analysis of Glucose and Insulin-related Traits Consortium (MAGIC); Ahlqvist E, Bergman RN, Chen YI, Collins FS, Fall T, Florez JC, Fritsche A, Grallert H, Groop L, Hansen T, Koistinen HA, Komulainen P, Laakso M, Lind L, Loeffler M, März W, Meigs JB, Raffel LJ, Rauramaa R, Rotter JI, Schwarz PEH, Stumvoll M, Sundström J, Tönjes A, Tuomi T, Tuomilehto J, Wagner R, Barroso I, Walker M, Grarup N, Boehnke M, Wareham NJ, Mohlke KL, Wheeler E, O’Rahilly S, Fazakerley DJ, Langenberg C.

Nat Genet. 2023 Jun 8. doi: 10.1038/s41588-023-01408-9. Online ahead of print.

PMID: 37291194

 

Reduced histone gene copy number disrupts Drosophila Polycomb function. 

McPherson JE, Grossmann LC, Salzler HR, Armstrong RL, Kwon E, Matera AG, McKay DJ, Duronio RJ.

Genetics. 2023 Jun 6:iyad106. doi: 10.1093/genetics/iyad106. Online ahead of print.

PMID: 37279945

 

Sample-wise Combined Missing Effect Model with Penalization. 

Li J, Yu G, Li Q, Liu Y.

J Comput Graph Stat. 2023;32(1):263-274. doi: 10.1080/10618600.2022.2070172. Epub 2022 May 26.

PMID: 37274355

 

Association of deep phenotyping with diagnostic yield of prenatal exome sequencing for fetal brain abnormalities. 

Drexler KA, Talati AN, Gilmore KL, Veazey R, Powell BC, Weck KE, Davis EE, Vora NL.

Genet Med. 2023 Jun 13:100915. doi: 10.1016/j.gim.2023.100915. Online ahead of print.

PMID: 37326029

 

Immune resilience despite inflammatory stress promotes longevity and favorable health outcomes including resistance to infection. 

Ahuja SK, Manoharan MS, Lee GC, McKinnon LR, Meunier JA, Steri M, Harper N, Fiorillo E, Smith AM, Restrepo MI, Branum AP, Bottomley MJ, Orrù V, Jimenez F, Carrillo A, Pandranki L, Winter CA, Winter LA, Gaitan AA, Moreira AG, Walter EA, Silvestri G, King CL, Zheng YT, Zheng HY, Kimani J, Blake Ball T, Plummer FA, Fowke KR, Harden PN, Wood KJ, Ferris MT, Lund JM, Heise MT, Garrett N, Canady KR, Abdool Karim SS, Little SJ, Gianella S, Smith DM, Letendre S, Richman DD, Cucca F, Trinh H, Sanchez-Reilly S, Hecht JM, Cadena Zuluaga JA, Anzueto A, Pugh JA; South Texas Veterans Health Care System COVID-19 team; Agan BK, Root-Bernstein R, Clark RA, Okulicz JF, He W.

Nat Commun. 2023 Jun 13;14(1):3286. doi: 10.1038/s41467-023-38238-6.

PMID: 37311745 Free PMC article.

 

Neuroinvasive Flavivirus Pathogenesis Is Restricted by Host Genetic Factors in Collaborative Cross Mice, Independently of Oas1b

Jasperse BA, Mattocks MD, Noll KE, Ferris MT, Heise MT, Lazear HM.

J Virol. 2023 Jun 13:e0071523. doi: 10.1128/jvi.00715-23. Online ahead of print.

PMID: 37310228

 

Context-aware transcript quantification from long-read RNA-seq data with Bambu. 

Chen Y, Sim A, Wan YK, Yeo K, Lee JJX, Ling MH, Love MI, Göke J.

Nat Methods. 2023 Jun 12. doi: 10.1038/s41592-023-01908-w. Online ahead of print.

PMID: 37308696

 

Navigating the bridge between wet and dry lab toxicology research to address current challenges with high-dimensional data. 

Payton A, Roell KR, Rebuli ME, Valdar W, Jaspers I, Rager JE.

Front Toxicol. 2023 May 26;5:1171175. doi: 10.3389/ftox.2023.1171175. eCollection 2023.

PMID: 37304253 Free PMC article.

 

Association of HER2DX with pathological complete response and survival outcomes in HER2-positive breast cancer. 

Villacampa G, Tung NM, Pernas S, Paré L, Bueno-Muiño C, Echavarría I, López-Tarruella S, Roche-Molina M, Del Monte-Millán M, Marín-Aguilera M, Brasó-Maristany F, Waks AG, Pascual T, Martínez-Sáez O, Vivancos A, Conte PF, Guarneri V, Dieci MV, Griguolo G, Cortés J, Llombart-Cussac A, Muñoz M, Vidal M, Adamo B, Wolff AC, DeMichele A, Villagrasa P, Parker JS, Perou CM, Fernandez-Martinez A, Carey LA, Mittendorf EA, Martín M, Prat A, Tolaney SM.

Ann Oncol. 2023 Jun 9:S0923-7534(23)00721-4. doi: 10.1016/j.annonc.2023.05.012. Online ahead of print.

PMID: 37302750

 

Collaborative cross strain CC011/UncJ as a novel mouse model of T2-high, severe asthma. 

Donoghue LJ, McFadden KM, Vargas D, Smith GJ, Immormino RM, Moran TP, Kelada SNP.

Respir Res. 2023 Jun 9;24(1):153. doi: 10.1186/s12931-023-02453-y.

PMID: 37296458 Free PMC article.