Bio

Jin Li

Jin Li is a Genetics Statistician at the Center for Applied Genomics. She joined CAG in 2011 and has been focusing on genome-wide association studies of complex human traits, copy number variations, and pathway analysis. She received her Ph.D. degree in Genetics and Development from Cornell University and further conducted her postdoctoral training in the Department of Systems Biology at the University of Texas M.D. Anderson Cancer Center.

Publications

CAG Publications

An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2.
Mancini C, Orsi L, Guo Y, Li J, Chen Y, Wang F, Tian L, Liu X, Zhang J, Jiang H, Nmezi BS, Tatsuta T, Giorgio E, Di Gregorio E, Cavalieri S, Pozzi E, Mortara P, Caglio MM, Balducci A, Pinessi L, Langer T, Padiath QS, et al.
BMC Med Genet. 2015 Mar 19;16:16. doi: 10.1186/s12881-015-0159-0.



Association of CLEC16A with human common variable immunodeficiency disorder and role in murine B cells.
Li J, Jørgensen SF, Maggadottir SM, Bakay M, Warnatz K, Glessner J, Pandey R, Salzer U, Schmidt RE, Perez E, Resnick E, Goldacker S, Buchta M, Witte T, Padyukov L, Videm V, Folseraas T, Atschekzei F, Elder JT, Nair RP, Winkelmann J, Gieger C, et al.
Nat Commun. 2015 Apr 20;6:6804. doi: 10.1038/ncomms7804.



Genome-wide association study of serum minerals levels in children of different ethnic background.
Chang X, Li J, Guo Y, Wei Z, Mentch FD, Hou C, Zhao Y, Qiu H, Kim C, Sleiman PM, Hakonarson H.
PLoS One. 2015;10(4):e0123499. doi: 10.1371/journal.pone.0123499.



Utility of next-generation sequencing technologies for the efficient genetic resolution of haematological disorders.
Zhang J, Barbaro P, Guo Y, Alodaib A, Li J, Gold W, Adès L, Keating BJ, Xu X, Teo J, Hakonarson H, Christodoulou J.
Clin Genet. 2015 Feb 20. doi: 10.1111/cge.12573. [Epub ahead of print]



Rare variants at 16p11.2 are associated with common variable immunodeficiency.
Maggadottir SM, Li J, Glessner JT, Li YR, Wei Z, Chang X, Mentch FD, Thomas KA, Kim CE, Zhao Y, Hou C, Wang F, Jørgensen SF, Perez EE, Sullivan KE, Orange JS, Karlsen TH, Chapel H, Cunningham-Rundles C, Hakonarson H.
J Allergy Clin Immunol. 2015 Jun;135(6):1569-77. doi: 10.1016/j.jaci.2014.12.1939. Epub 2015 Feb 10.



Joint analysis of psychiatric disorders increases accuracy of risk prediction for schizophrenia, bipolar disorder, and major depressive disorder.
Maier R, Moser G, Chen GB, Ripke S; Cross-Disorder Working Group of the Psychiatric Genomics Consortium, Coryell W, Potash JB, Scheftner WA, Shi J, Weissman MM, Hultman CM, Landén M, Levinson DF, Kendler KS, Smoller JW, Wray NR, Lee SH.
Am J Hum Genet. 2015 Feb 5;96(2):283-94. doi: 10.1016/j.ajhg.2014.12.006. Epub 2015 Jan 29.



Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways.
Network and Pathway Analysis Subgroup of Psychiatric Genomics Consortium.
Nat Neurosci. 2015 Feb;18(2):199-209. doi: 10.1038/nn.3922. Epub 2015 Jan 19.



Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia.
Menezes MJ, Guo Y, Zhang J, Riley LG, Cooper ST, Thorburn DR, Li J, Dong D, Li Z, Glessner J, Davis RL, Sue CM, Alexander SI, Arbuckle S, Kirwan P, Keating BJ, Xu X, Hakonarson H, Christodoulou J.
Hum Mol Genet. 2015 Apr 15;24(8):2297-307. doi: 10.1093/hmg/ddu747. Epub 2015 Jan 2.



Modulatory effects of TAOK3 variants on morphine requirement in acute postoperative pain: an early genome wide association study contribution to the field of pediatric pain.
Cook-Sather SD, Li J, Hakonarson H.
Pain. 2014 Nov;155(11):2435-7. doi: 10.1016/j.pain.2014.09.010. Epub 2014 Nov 18. No abstract available.



Phenotype specific association of the TGFBR3 locus with nonsyndromic cryptorchidism.
Barthold JS, Wang Y, Kolon TF, Kollin C, Nordenskjöld A, Olivant Fisher A, Figueroa TE, BaniHani AH, Hagerty JA, Gonzalez R, Noh PH, Chiavacci RM, Harden KR, Abrams DJ, Kim CE, Mateson AB, Robbins AK, Li J, Akins RE Jr, Hakonarson H, Devoto M.
J Urol. 2015 May;193(5):1637-45. doi: 10.1016/j.juro.2014.10.097. Epub 2014 Oct 25.



Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1.
Guo Y, Kartawinata M, Li J, Pickett HA, Teo J, Kilo T, Barbaro PM, Keating B, Chen Y, Tian L, Al-Odaib A, Reddel RR, Christodoulou J, Xu X, Hakonarson H, Bryan TM.
Blood. 2014 Oct 30;124(18):2767-74. doi: 10.1182/blood-2014-08-596445. Epub 2014 Sep 9.



TAOK3, a novel genome-wide association study locus associated with morphine requirement and postoperative pain in a retrospective pediatric day surgery population.
Cook-Sather SD, Li J, Goebel TK, Sussman EM, Rehman MA, Hakonarson H.
Pain. 2014 Sep;155(9):1773-83. doi: 10.1016/j.pain.2014.05.032. Epub 2014 Jun 5.



Transcriptome profiling of human ulcerative colitis mucosa reveals altered expression of pathways enriched in genetic susceptibility loci.
Cardinale CJ, Wei Z, Li J, Zhu J, Gu M, Baldassano RN, Grant SF, Hakonarson H.
PLoS One. 2014;9(5):e96153. doi: 10.1371/journal.pone.0096153.



Genome-wide copy number analysis in a family with p.G533C RET mutation and medullary thyroid carcinoma identified regions potentially associated with a higher predisposition to lymph node metastasis.
Araujo AN, Moraes L, França MI, Hakonarson H, Li J, Pellegrino R, Maciel RM, Cerutti JM.
J Clin Endocrinol Metab. 2014 Jun;99(6):E1104-12. doi: 10.1210/jc.2013-2993. Epub 2014 Mar 6.



Genetic variation in genes encoding airway epithelial potassium channels is associated with chronic rhinosinusitis in a pediatric population.
Purkey MT, Li J, Mentch F, Grant SF, Desrosiers M, Hakonarson H, Toskala E.
PLoS One. 2014;9(3):e89329. doi: 10.1371/journal.pone.0089329.



Causal effects of body mass index on cardiometabolic traits and events: a Mendelian randomization analysis.
Holmes MV, Lange LA, Palmer T, Lanktree MB, North KE, Almoguera B, Buxbaum S, Chandrupatla HR, Elbers CC, Guo Y, Hoogeveen RC, Li J, Li YR, Swerdlow DI, Cushman M, Price TS, Curtis SP, Fornage M, Hakonarson H, Patel SR, Redline S, Siscovick DS, et al.
Am J Hum Genet. 2014 Feb 6;94(2):198-208. doi: 10.1016/j.ajhg.2013.12.014. Epub 2014 Jan 23. Erratum in: Am J Hum Genet. 2014 Feb 6;94(2):312.



Gene network analysis in a pediatric cohort identifies novel lung function genes.
Ong BA, Li J, McDonough JM, Wei Z, Kim C, Chiavacci R, Mentch F, Caboot JB, Spergel J, Allen JL, Sleiman PM, Hakonarson H.
PLoS One. 2013;8(9):e72899. doi: 10.1371/journal.pone.0072899.



Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs.
Cross-Disorder Group of the Psychiatric Genomics Consortium, Lee SH, Ripke S, Neale BM, Faraone SV, Purcell SM, Perlis RH, Mowry BJ, Thapar A, Goddard ME, Witte JS, Absher D, Agartz I, Akil H, Amin F, Andreassen OA, Anjorin A, Anney R, Anttila V, Arking DE, Asherson P, Azevedo MH, et al.
Nat Genet. 2013 Sep;45(9):984-94. doi: 10.1038/ng.2711. Epub 2013 Aug 11.



Large sample size, wide variant spectrum, and advanced machine-learning technique boost risk prediction for inflammatory bowel disease.
Wei Z, Wang W, Bradfield J, Li J, Cardinale C, Frackelton E, Kim C, Mentch F, Van Steen K, Visscher PM, Baldassano RN, Hakonarson H; International IBD Genetics Consortium.
Am J Hum Genet. 2013 Jun 6;92(6):1008-12. doi: 10.1016/j.ajhg.2013.05.002. Epub 2013 May 23.



Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
Cross-Disorder Group of the Psychiatric Genomics Consortium.
Lancet. 2013 Apr 20;381(9875):1371-9. doi: 10.1016/S0140-6736(12)62129-1. Epub 2013 Feb 28. Erratum in: Lancet. 2013 Apr 20;381(9875):1360.



Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network.
Chen Z, Tang H, Qayyum R, Schick UM, Nalls MA, Handsaker R, Li J, Lu Y, Yanek LR, Keating B, Meng Y, van Rooij FJ, Okada Y, Kubo M, Rasmussen-Torvik L, Keller MF, Lange L, Evans M, Bottinger EP, Linderman MD, Ruderfer DM, Hakonarson H, et al.
Hum Mol Genet. 2013 Jun 15;22(12):2529-38. doi: 10.1093/hmg/ddt087. Epub 2013 Feb 26.



ParseCNV integrative copy number variation association software with quality tracking.
Glessner JT, Li J, Hakonarson H.
Nucleic Acids Res. 2013 Mar 1;41(5):e64. doi: 10.1093/nar/gks1346. Epub 2013 Jan 4.



GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
Li J, Glessner JT, Zhang H, Hou C, Wei Z, Bradfield JP, Mentch FD, Guo Y, Kim C, Xia Q, Chiavacci RM, Thomas KA, Qiu H, Grant SF, Furth SL, Hakonarson H, Sleiman PM.
Hum Mol Genet. 2013 Apr 1;22(7):1457-64. doi: 10.1093/hmg/dds534. Epub 2012 Dec 20.



Copy number variation on chromosome 10q26.3 for obesity identified by a genome-wide study.
Yang TL, Guo Y, Shen H, Li J, Glessner JT, Qiu C, Deng FY, Tian Q, Yu P, Liu YZ, Liu YJ, Hakonarson H, Grant SF, Deng HW.
J Clin Endocrinol Metab. 2013 Jan;98(1):E191-5. doi: 10.1210/jc.2012-2751. Epub 2012 Nov 21.



Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease.
Lu X, Wang L, Chen S, He L, Yang X, Shi Y, Cheng J, Zhang L, Gu CC, Huang J, Wu T, Ma Y, Li J, Cao J, Chen J, Ge D, Fan Z, Li Y, Zhao L, Li H, Zhou X, Chen L, et al.
Nat Genet. 2012 Jul 1;44(8):890-4. doi: 10.1038/ng.2337.



Genomewide association studies: history, rationale, and prospects for psychiatric disorders.
Psychiatric GWAS Consortium Coordinating Committee, Cichon S, Craddock N, Daly M, Faraone SV, Gejman PV, Kelsoe J, Lehner T, Levinson DF, Moran A, Sklar P, Sullivan PF.
Am J Psychiatry. 2009 May;166(5):540-56. doi: 10.1176/appi.ajp.2008.08091354. Epub 2009 Apr 1. Review.