Skip to main content

UNC Genetics PublicationsDepartment of Genetics faculty, postdocs, students and collaborators published 14 papers during June 18th – July 1st, 2023.

 

Genetic regulators of sputum mucin concentration and their associations with COPD phenotypes. 

Buren EV, Radicioni G, Lester S, O’Neal WK, Dang H, Kasela S, Garudadri S, Curtis JL, Han MK, Krishnan JA, Wan ES, Silverman EK, Hastie A, Ortega VE, Lappalainen T, Nawijn MC, Berge MVD, Christenson SA, Li Y, Cho MH, Kesimer M, Kelada SNP.

PLoS Genet. 2023 Jun 23;19(6):e1010445. doi: 10.1371/journal.pgen.1010445. Online ahead of print.

PMID: 37352370

 

Expanding the stdpopsim species catalog, and lessons learned for realistic genome simulations. 

Lauterbur ME, Cavassim MIA, Gladstein AL, Gower G, Pope NS, Tsambos G, Adrion J, Belsare S, Biddanda A, Caudill V, Cury J, Echevarria I, Haller BC, Hasan AR, Huang X, Iasi LNM, Noskova E, Obsteter J, Pavinato VAC, Pearson A, Peede D, Perez MF, Rodrigues MF, Smith CCR, Spence JP, Teterina A, Tittes S, Unneberg P, Vazquez JM, Waples RK, Wohns AW, Wong Y, Baumdicker F, Cartwright RA, Gorjanc G, Gutenkunst RN, Kelleher J, Kern AD, Ragsdale AP, Ralph PL, Schrider DR, Gronau I.

Elife. 2023 Jun 21;12:RP84874. doi: 10.7554/eLife.84874.

PMID: 37342968

 

ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG). 

Miller DT, Lee K, Abul-Husn NS, Amendola LM, Brothers K, Chung WK, Gollob MH, Gordon AS, Harrison SM, Hershberger RE, Klein TE, Richards CS, Stewart DR, Martin CL; ACMG Secondary Findings Working Group. Electronic address: documents@acmg.net.

Genet Med. 2023 Jun 15:100866. doi: 10.1016/j.gim.2023.100866. Online ahead of print.

PMID: 37347242 No abstract available.

 

Efficient multiple change point detection for high-dimensional generalized linear models. 

Wang X, Liu B, Zhang X, Liu Y; Alzheimer’s Disease Neuroimaging Initiative.

Can J Stat. 2023 Jun;51(2):596-629. doi: 10.1002/cjs.11721. Epub 2022 Sep 16.

PMID: 37346756

 

Cross-trait prediction accuracy of summary statistics in genome-wide association studies. 

Zhao B, Zou F, Zhu H.

Biometrics. 2023 Jun;79(2):841-853. doi: 10.1111/biom.13661. Epub 2022 Mar 30.

PMID: 35278218

 

Joint gene network construction by single-cell RNA sequencing data. 

Dong M, He Y, Jiang Y, Zou F.

Biometrics. 2023 Jun;79(2):915-925. doi: 10.1111/biom.13645. Epub 2022 Apr 15.

PMID: 35184277

 

TreeTerminus -creating transcript trees using inferential replicate counts. 

Singh NP, Love MI, Patro R.

iScience. 2023 May 25;26(6):106961. doi: 10.1016/j.isci.2023.106961. eCollection 2023 Jun 16.

PMID: 37378336 Free PMC article.

 

Identification of Genomic Loci Regulating Platelet Plasminogen Activator Inhibitor-1 in Mice. 

Siebert AE, Brake MA, Verbeek SC, Johnston AJ, Morgan AP, Cleuren AC, Jurek AM, Schneider CD, Germain DM, Battistuzzi FU, Zhu G, Miller DR, Johnsen JM, Pardo-Manuel de Villena F, Rondina MT, Westrick RJ.

J Thromb Haemost. 2023 Jun 24:S1538-7836(23)00503-2. doi: 10.1016/j.jtha.2023.06.018. Online ahead of print.

PMID: 37364776

 

Donor perspectives on informed consent and use of biospecimens for brain organoid research. 

MacDuffie KE, Stein JL, Doherty D, Jayadev S, Girault JB, Emmons KA, Glass MR, Dempsey JC, Marrus N, Botteron KN, Dager SR, Estes AM, Piven J, Wilfond BS.

Stem Cell Reports. 2023 Jun 8:S2213-6711(23)00198-4. doi: 10.1016/j.stemcr.2023.05.019. Online ahead of print.

PMID: 37352851

 

Genetic associations with parental investment from conception to wealth inheritance in six cohorts. 

Wertz J, Moffitt TE, Arseneault L, Barnes JC, Boivin M, Corcoran DL, Danese A, Hancox RJ, Harrington H, Houts RM, Langevin S, Liu H, Poulton R, Sugden K, Tanksley PT, Williams BS, Caspi A.

Nat Hum Behav. 2023 Jun 29. doi: 10.1038/s41562-023-01618-5. Online ahead of print.

PMID: 37386103

 

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms. 

Kaur M, Blair J, Devkota B, Fortunato S, Clark D, Lawrence A, Kim J, Do W, Semeo B, Katz O, Mehta D, Yamamoto N, Schindler E, Al Rawi Z, Wallace N, Wilde JJ, McCallum J, Liu J, Xu D, Jackson M, Rentas S, Tayoun AA, Zhe Z, Abdul-Rahman O, Allen B, Angula MA, Anyane-Yeboa K, Argente J, Arn PH, Armstrong L, Basel-Salmon L, Baynam G, Bird LM, Bruegger D, Ch’ng GS, Chitayat D, Clark R, Cox GF, Dave U, DeBaere E, Field M, Graham JM Jr, Gripp KW, Greenstein R, Gupta N, Heidenreich R, Hoffman J, Hopkin RJ, Jones KL, Jones MC, Kariminejad A, Kogan J, Lace B, Leroy J, Lynch SA, McDonald M, Meagher K, Mendelsohn N, Micule I, Moeschler J, Nampoothiri S, Ohashi K, Powell CM, Ramanathan S, Raskin S, Roeder E, Rio M, Rope AF, Sangha K, Scheuerle AE, Schneider A, Shalev S, Siu V, Smith R, Stevens C, Tkemaladze T, Toimie J, Toriello H, Turner A, Wheeler PG, White SM, Young T, Loomes KM, Pipan M, Harrington AT, Zackai E, Rajagopalan R, Conlin L, Deardorff MA, McEldrew D, Pie J, Ramos F, Musio A, Kline AD, Izumi K, Raible SE, Krantz ID.

Am J Med Genet A. 2023 Jun 28. doi: 10.1002/ajmg.a.63247. Online ahead of print.

PMID: 37377026

 

Pharmacogenomic Analyses Implicate B Cell Developmental Status and MKL1 as Determinants of Sensitivity toward Anti-CD20 Monoclonal Antibody Therapy. 

Small GW, Akhtari FS, Green AJ, Havener TM, Sikes M, Quintanhila J, Gonzalez RD, Reif DM, Motsinger-Reif AA, McLeod HL, Wiltshire T.

Cells. 2023 Jun 7;12(12):1574. doi: 10.3390/cells12121574.

PMID: 37371044 Free PMC article.

 

Mapping Genetic Topography of Cortical Thickness and Surface Area in Neonatal Brains. 

Huang Y, Wu Z, Li T, Wang X, Wang Y, Xing L, Zhu H, Lin W, Wang L, Guo L, Gilmore JH, Li G.

J Neurosci. 2023 Jun 27:JN-RM-1841-22. doi: 10.1523/JNEUROSCI.1841-22.2023. Online ahead of print.

PMID: 37369585

 

Four-dimensional mapping of dynamic longitudinal brain subcortical development and early learning functions in infants. 

Chen L, Wang Y, Wu Z, Shan Y, Li T, Hung SC, Xing L, Zhu H, Wang L, Lin W, Li G.

Nat Commun. 2023 Jun 22;14(1):3727. doi: 10.1038/s41467-023-38974-9.

PMID: 37349301 Free PMC article.