Lifeng Tian, PhD, Bioinformatics Specialist

In 2010, Lifeng Tian joined the Center for Applied Genomics as a Bioinformatics Scientist. His current research focuses on 1) Building bioinformatics pipelines for next-generation sequencing data analysis; 2) Leading the whole exome sequencing project and addressing the analytical needs of the projects; 3) Performing data analysis of whole exome sequencing of Mendelian disorders, transcriptome analysis using RNA-seq.

He received his Ph.D. in computational biochemistry from the University of the Sciences in Philadelphia in 2007. He joined the Rosetta Inpharmatics/Merck Research Lab in 2007, working on cancer biomarker identification by gene expression profiling. In 2008, he left Rosetta and started his postdoc training in Human Genetics at the University of Pennsylvania, focusing on experimental studies of the etiology of the age-related macular degeneration.


Key Publications

Shape signatures: a new approach to computer-aided ligand- and receptor-based drug design.
Zauhar RJ, Moyna G, Tian L, Li Z, Welsh WJ.
J Med Chem. 2003 Dec 18;46(26):5674-90.

Genomic profiling of miRNAs in two human lens cell lines.
Tian L, Kristen H, Stambolian D.
Curr Eye Res. 2010 Sep;35(9):812-8. doi: 10.3109/02713683.2010.489182.

Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.
Martignetti JA, Tian L, Li D, Ramirez MC, Camacho-Vanegas O, Camacho SC, Guo Y, Zand DJ, Bernstein AM, Masur SK, Kim CE, Otieno FG, Hou C, Abdel-Magid N, Tweddale B, Metry D, Fournet JC, Papp E, McPherson EW, Zabel C, Vaksmann G, Morisot C, et al.
Am J Hum Genet. 2013 Jun 6;92(6):1001-7. doi: 10.1016/j.ajhg.2013.04.024. Epub 2013 May 23.

Transcriptome of the human retina, retinal pigmented epithelium and choroid.
Tian L, Kazmierkiewicz K, Bowman A; Li M, Curcio CA, Stambolian D.
Genomics. 2015 May;105(5-6):253-64. doi: 10.1016/j.ygeno.2015.01.008. Epub 2015 Jan 31..

Other 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.

Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect.
Guo Y, Menezes MJ, Menezes MP, Liang J, Li D, Riley LG, Clarke NF, Andrews PI, Tian L, Webster R, Wang F, Liu X, Shen Y, Thorburn DR, Keating BJ, Engel A, Hakonarson H, Christodoulou J, Xu X.
Neuromuscul Disord. 2015 Mar;25(3):257-61. doi: 10.1016/j.nmd.2014.11.017. Epub 2014 Dec 10.

Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.
Almoguera B, He S, Corton M, Fernandez-San Jose P, Blanco-Kelly F, López-Molina MI, García-Sandoval B, Del Val J, Guo Y, Tian L, Liu X, Guan L, Torres RJ, Puig JG, Hakonarson H, Xu X, Keating B, Ayuso C.
Orphanet J Rare Dis. 2014 Dec 10;9:190. doi: 10.1186/s13023-014-0190-9.

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.

Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients.
Prokudin I, Li D, He S, Guo Y, Goodwin L, Wilson M, Rose L, Tian L, Chen Y, Liang J, Keating B, Xu X, Jamieson RV, Hakonarson H.
Clin Experiment Ophthalmol. 2015 Mar;43(2):132-8. doi: 10.1111/ceo.12391. Epub 2014 Oct 2.

Erratum to: AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.
Falk MJ, Li D, Gai X, McCormick E, Place E, Lasorsa FM, Otieno FG, Hou C, Kim CE, Abdel-Magid N, Vazquez L, Mentch FD, Chiavacci R, Liang J, Liu X, Jiang H, Giannuzzi G, Marsh ED, Guo Y, Tian L, Palmieri F, Hakonarson H.
JIMD Rep. 2014;14:119. doi: 10.1007/8904_2014_314. Epub 2014 Jun 29. No abstract available.

Comprehensive analysis of gene expression in human retina and supporting tissues.
Li M, Jia C, Kazmierkiewicz KL, Bowman AS, Tian L, Liu Y, Gupta NA, Gudiseva HV, Yee SS, Kim M, Dentchev T, Kimble JA, Parker JS, Messinger JD, Hakonarson H, Curcio CA, Stambolian D.
Hum Mol Genet. 2014 Aug 1;23(15):4001-14. doi: 10.1093/hmg/ddu114. Epub 2014 Mar 14.

Advantage of Whole Exome Sequencing over Allele-specific and Targeted Segment Sequencing, in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis.
Guo Y, Prokudin I, Yu C, Liang J, Xie Y, Flaherty M, Tian L, Crofts S, Wang F, Snyder J, Donaldson C, Abdel-Magid N, Vazquez L, Keating B, Hakonarson H, Wang J, Jamieson RV.
Ophthalmic Genet. 2014 Feb 19. [Epub ahead of print]

AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.
Falk MJ, Li D, Gai X, McCormick E, Place E, Lasorsa FM, Otieno FG, Hou C, Kim CE, Abdel-Magid N, Vazquez L, Mentch FD, Chiavacci R, Liang J, Liu X, Jiang H, Giannuzzi G, Marsh ED, Yiran G, Tian L, Palmieri F, Hakonarson H.
JIMD Rep. 2014;14:77-85. doi: 10.1007/8904_2013_287. Epub 2014 Feb 11.

A missense mutation in ANKRD26 segregates with thrombocytopenia.
Al Daama SA, Housawi YH, Dridi W, Sager M, Otieno FG, Hou C, Vasquez L, Kim C, Tian L, Sleiman P, Hakonarson H.
Blood. 2013 Jul 18;122(3):461-2. doi: 10.1182/blood-2013-03-489344. No abstract available.

Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing.
O'Rawe J, Jiang T, Sun G, Wu Y, Wang W, Hu J, Bodily P, Tian L, Hakonarson H, Johnson WE, Wei Z, Wang K, Lyon GJ.
Genome Med. 2013;5(3):28. doi: 10.1186/gm432.

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.

Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications.
Lyon GJ, Jiang T, Van Wijk R, Wang W, Bodily PM, Xing J, Tian L, Robison RJ, Clement M, Lin Y, Zhang P, Liu Y, Moore B, Glessner JT, Elia J, Reimherr F, van Solinge WW, Yandell M, Hakonarson H, Wang J, Johnson WE, Wei Z, et al.
Discov Med. 2011 Jul;12(62):41-55.