Yiran Guo, Research Specialist

Yiran Guo is a Research Scientist at CAG. He joined CAG in 2009, and led the analyses of associations between genomic variants and human traits such as blood lipids, body mass index, waist hip ratio, height, and heritable diseases like type 2 diabetes and hypertension. Conducting meta-analysis of up to 200,000 samples genotyped on the same gene-centric microarray (IBC chip), he identified multiple novel genomic associations and genetic insights for these traits/diseases with 14 co-authored publications in Lancet, British Medical Journal, American Journal of Human Genetics (AJHG), PLoS Genetics, Human Molecular Genetics (HMG) and European Journal of Human Genetics.

He is currently analyzing next generation sequencing data for both common and rare disorders from an extensive range of categories, such as neurological, hematological, skeletal, cardiovascular, mitochondrial, metabolic, endocrinological, craniofacial, ophthalmological, and psychiatric diseases. As the project leader of a collaborative effort between CAG, BGI and physicins/clinical genetists around the world, he managed the 1000 Rare Disease Sequencing project, and made novel discoveries of causal genes/mutations with 14 co-authored publications in AJHG, Blood, Neurology, HMG and Human Mutation.

Dr Guo is also working on preterm birth genetics supported by the Burroughs Wellcome Fund, as well as pharmacogenetics under the NIH Electronic Medical Records and Genomics (eMERGE) project. He was recognized by the CHOP Research Institute as a recipient of the 2013 CHOP Distinguished Research Trainee Award. He was sponsored by a Postdoctoral Fellowship Award for Anorexia nervosa genetics study from the Hilda and Preston Davis Foundation from 2011 to 2014.

Before joining CAG, Dr. Guo worked as a bioinformatician in BGI-Shenzhen, China. During that time he contributed to the 2008 Nature paper of generating and analyzing the first Asian genome sequence. He led the project of the silkworm genetic variation study, published in Science in 2009, in which he reconstructed the silkworm evolutionary tree and identified genes that are under significant positive selection during silkworm domestication.

He received his B.Sc. in Mathematics and Applied Mathematics from Beihang University, Beijing, China in 2003. He earned a Ph.D. in Bioinformatics and Genomics from the Beijing Institute of Genetics/Graduate University of Chinese Academy of Sciences (CAS) in 2009, and received an Excellent Ph.D. thesis award of CAS.


CAG Publications**

**An updated list of publications is available at My NCBI Collections.

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.

Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations.
Mancini C, Nassani S, Guo Y, Chen Y, Giorgio E, Brussino A, Di Gregorio E, Cavalieri S, Lo Buono N, Funaro A, Pizio NR, Nmezi B, Kyttala A, Santorelli FM, Padiath QS, Hakonarson H, Zhang H, Brusco A.
J Neurol. 2015 Jan;262(1):173-8. doi: 10.1007/s00415-014-7553-y. Epub 2014 Oct 31.

HMG-coenzyme A reductase inhibition, type 2 diabetes, and bodyweight: evidence from genetic analysis and randomised trials.
Swerdlow DI, Preiss D, Kuchenbaecker KB, Holmes MV, Engmann JE, Shah T, Sofat R, Stender S, Johnson PC, Scott RA, Leusink M, Verweij N, Sharp SJ, Guo Y, Giambartolomei C, Chung C, Peasey A, Amuzu A, Li K, Palmen J, Howard P, Cooper JA, et al.
Lancet. 2015 Jan 24;385(9965):351-61. doi: 10.1016/S0140-6736(14)61183-1. Epub 2014 Sep 24.

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]

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.

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.

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.

De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.
Gil-Rodríguez MC, Deardorff MA, Ansari M, Tan CA, Parenti I, Baquero-Montoya C, Ousager LB, Puisac B, Hernández-Marcos M, Teresa-Rodrigo ME, Marcos-Alcalde I, Wesselink JJ, Lusa-Bernal S, Bijlsma EK, Braunholz D, Bueno-Martinez I, Clark D, Cooper NS, Curry CJ, Fisher R, Fryer A, Ganesh J, et al.
Hum Mutat. 2015 Apr;36(4):454-62. doi: 10.1002/humu.22761. Epub 2015 Mar 17.

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.

Lipids, obesity and gallbladder disease in women: insights from genetic studies using the cardiovascular gene-centric 50K SNP array.
Rodriguez S, Gaunt TR, Guo Y, Zheng J, Barnes MR, Tang W, Danish F, Johnson A, Castillo BA, Li YR, Hakonarson H, Buxbaum SG, Palmer T, Tsai MY, Lange LA, Ebrahim S, Davey Smith G, Lawlor DA, Folsom AR, Hoogeveen R, Reiner A, Keating B, et al.
Eur J Hum Genet. 2015 Apr 29. doi: 10.1038/ejhg.2015.63. [Epub ahead of print]

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.

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]

Gene-centric meta-analyses for central adiposity traits in up to 57 412 individuals of European descent confirm known loci and reveal several novel associations.
Yoneyama S, Guo Y, Lanktree MB, Barnes MR, Elbers CC, Karczewski KJ, Padmanabhan S, Bauer F, Baumert J, Beitelshees A, Berenson GS, Boer JM, Burke G, Cade B, Chen W, Cooper-Dehoff RM, Gaunt TR, Gieger C, Gong Y, Gorski M, Heard-Costa N, Johnson T, et al.
Hum Mol Genet. 2014 May 1;23(9):2498-510. doi: 10.1093/hmg/ddt626. Epub 2013 Dec 17.

Association between alcohol and cardiovascular disease: Mendelian randomisation analysis based on individual participant data.
Holmes MV, Dale CE, Zuccolo L, Silverwood RJ, Guo Y, Ye Z, Prieto-Merino D, Dehghan A, Trompet S, Wong A, Cavadino A, Drogan D, Padmanabhan S, Li S, Yesupriya A, Leusink M, Sundstrom J, Hubacek JA, Pikhart H, Swerdlow DI, Panayiotou AG, Borinskaya SA, et al.
BMJ. 2014 Jul 10;349:g4164. doi: 10.1136/bmj.g4164.

TUBB4A de novo mutations cause isolated hypomyelination.
Pizzino A, Pierson TM, Guo Y, Helman G, Fortini S, Guerrero K, Saitta S, Murphy JL, Padiath Q, Xie Y, Hakonarson H, Xu X, Funari T, Fox M, Taft RJ, van der Knaap MS, Bernard G, Schiffmann R, Simons C, Vanderver A.
Neurology. 2014 Sep 2;83(10):898-902. doi: 10.1212/WNL.0000000000000754. Epub 2014 Aug 1.

A genome-wide association study of anorexia nervosa.
Boraska V, Franklin CS, Floyd JA, Thornton LM, Huckins LM, Southam L, Rayner NW, Tachmazidou I, Klump KL, Treasure J, Lewis CM, Schmidt U, Tozzi F, Kiezebrink K, Hebebrand J, Gorwood P, Adan RA, Kas MJ, Favaro A, Santonastaso P, Fernández-Aranda F, Gratacos M, et al.
Mol Psychiatry. 2014 Oct;19(10):1085-94. doi: 10.1038/mp.2013.187. Epub 2014 Feb 11.

Using ancestry-informative markers to identify fine structure across 15 populations of European origin.
Huckins LM, Boraska V, Franklin CS, Floyd JA, Southam L; GCAN; WTCCC3, Sullivan PF, Bulik CM, Collier DA, Tyler-Smith C, Zeggini E, Tachmazidou I; GCAN; WTCCC3.
Eur J Hum Genet. 2014 Oct;22(10):1190-200. doi: 10.1038/ejhg.2014.1. Epub 2014 Feb 19.

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.

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.
Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group.
Neurology. 2014 Nov 18;83(21):1898-905. doi: 10.1212/WNL.0000000000001002. Epub 2014 Oct 22.

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.

Gene-centric meta-analysis of lipid traits in African, East Asian and Hispanic populations.
Elbers CC, Guo Y, Tragante V, van Iperen EP, Lanktree MB, Castillo BA, Chen F, Yanek LR, Wojczynski MK, Li YR, Ferwerda B, Ballantyne CM, Buxbaum SG, Chen YD, Chen WM, Cupples LA, Cushman M, Duan Y, Duggan D, Evans MK, Fernandes JK, Fornage M, et al.
PLoS One. 2012;7(12):e50198. doi: 10.1371/journal.pone.0050198. Epub 2012 Dec 7.

Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci.
Saxena R, Elbers CC, Guo Y, Peter I, Gaunt TR, Mega JL, Lanktree MB, Tare A, Castillo BA, Li YR, Johnson T, Bruinenberg M, Gilbert-Diamond D, Rajagopalan R, Voight BF, Balasubramanyam A, Barnard J, Bauer F, Baumert J, Bhangale T, Böhm BO, Braund PS, et al.
Am J Hum Genet. 2012 Mar 9;90(3):410-25. doi: 10.1016/j.ajhg.2011.12.022. Epub 2012 Feb 9. Erratum in: Am J Hum Genet. 2012 Apr 6;90(4):753. Sever, Peter [added]; Poulter, Neil [added] Bhatt, Deepak [corrected to Bhatt, Deepak L]; Asselbergs, Folkert [corrected to Asselbergs, Folkert W].

The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis.
Interleukin-6 Receptor Mendelian Randomisation Analysis (IL6R MR) Consortium.
Lancet. 2012 Mar 31;379(9822):1214-24. doi: 10.1016/S0140-6736(12)60110-X. Epub 2012 Mar 14.

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
Asselbergs FW, Guo Y, van Iperen EP, Sivapalaratnam S, Tragante V, Lanktree MB, Lange LA, Almoguera B, Appelman YE, Barnard J, Baumert J, Beitelshees AL, Bhangale TR, Chen YD, Gaunt TR, Gong Y, Hopewell JC, Johnson T, Kleber ME, Langaee TY, Li M, Li YR, et al.
Am J Hum Genet. 2012 Nov 2;91(5):823-38. doi: 10.1016/j.ajhg.2012.08.032. Epub 2012 Oct 11.

Gene-centric meta-analyses of 108 912 individuals confirm known body mass index loci and reveal three novel signals.
Guo Y, Lanktree MB, Taylor KC, Hakonarson H, Lange LA, Keating BJ; IBC 50K SNP array BMI Consortium.
Hum Mol Genet. 2013 Jan 1;22(1):184-201. doi: 10.1093/hmg/dds396. Epub 2012 Sep 21.

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.

Loci influencing blood pressure identified using a cardiovascular gene-centric array.
Ganesh SK, Tragante V, Guo W, Guo Y, Lanktree MB, Smith EN, Johnson T, Castillo BA, Barnard J, Baumert J, Chang YP, Elbers CC, Farrall M, Fischer ME, Franceschini N, Gaunt TR, Gho JM, Gieger C, Gong Y, Isaacs A, Kleber ME, Mateo Leach I, et al.
Hum Mol Genet. 2013 Apr 15;22(8):1663-78. doi: 10.1093/hmg/dds555. Epub 2013 Jan 8. Erratum in: Hum Mol Genet. 2013 Aug 15;22(16):3394-5. Van Setten, Jessic A [corrected to Van Setten, Jessica].

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.

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.

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.

PigGIS: Pig Genomic Informatics System.
Ruan J, Guo Y, Li H, Hu Y, Song F, Huang X, Kristiensen K, Bolund L, Wang J.
Nucleic Acids Res. 2007 Jan;35(Database issue):D654-7. Epub 2006 Nov 7.

A cross-species alignment tool (CAT).
Li H, Guan L, Liu T, Guo Y, Zheng WM, Wong GK, Wang J.
BMC Bioinformatics. 2007 Sep 19;8:349.

Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies.
Keating BJ, Tischfield S, Murray SS, Bhangale T, Price TS, Glessner JT, Galver L, Barrett JC, Grant SF, Farlow DN, Chandrupatla HR, Hansen M, Ajmal S, Papanicolaou GJ, Guo Y, Li M, Derohannessian S, de Bakker PI, Bailey SD, Montpetit A, Edmondson AC, Taylor K, et al.
PLoS One. 2008;3(10):e3583. doi: 10.1371/journal.pone.0003583. Epub 2008 Oct 31.

TreeFam: 2008 Update.
Ruan J, Li H, Chen Z, Coghlan A, Coin LJ, Guo Y, Hériché JK, Hu Y, Kristiansen K, Li R, Liu T, Moses A, Qin J, Vang S, Vilella AJ, Ureta-Vidal A, Bolund L, Wang J, Durbin R.
Nucleic Acids Res. 2008 Jan;36(Database issue):D735-40. Epub 2007 Dec 1.

The diploid genome sequence of an Asian individual.
Wang J, Wang W, Li R, Li Y, Tian G, Goodman L, Fan W, Zhang J, Li J, Zhang J, Guo Y, Feng B, Li H, Lu Y, Fang X, Liang H, Du Z, Li D, Zhao Y, Hu Y, Yang Z, Zheng H, et al.
Nature. 2008 Nov 6;456(7218):60-5. doi: 10.1038/nature07484.

Complete resequencing of 40 genomes reveals domestication events and genes in silkworm (Bombyx).
Xia Q, Guo Y, Zhang Z, Li D, Xuan Z, Li Z, Dai F, Li Y, Cheng D, Li R, Cheng T, Jiang T, Becquet C, Xu X, Liu C, Zha X, Fan W, Lin Y, Shen Y, Jiang L, Jensen J, Hellmann I, et al.
Science. 2009 Oct 16;326(5951):433-6. doi: 10.1126/science.1176620. Epub 2009 Aug 27.

The sequence and de novo assembly of the giant panda genome.
Li R, Fan W, Tian G, Zhu H, He L, Cai J, Huang Q, Cai Q, Li B, Bai Y, Zhang Z, Zhang Y, Wang W, Li J, Wei F, Li H, Jian M, Li J, Zhang Z, Nielsen R, Li D, Gu W, et al.
Nature. 2010 Jan 21;463(7279):311-7. doi: 10.1038/nature08696. Epub 2009 Dec 13. Erratum in: Nature. 2010 Feb 25;463(7284):1106.

Genetic diversity, molecular phylogeny and selection evidence of the silkworm mitochondria implicated by complete resequencing of 41 genomes.
Li D, Guo Y, Shao H, Tellier LC, Wang J, Xiang Z, Xia Q.
BMC Evol Biol. 2010 Mar 24;10:81. doi: 10.1186/1471-2148-10-81.

Design of association studies with pooled or un-pooled next-generation sequencing data.
Kim SY, Li Y, Guo Y, Li R, Holmkvist J, Hansen T, Pedersen O, Wang J, Nielsen R.
Genet Epidemiol. 2010 Jul;34(5):479-91. doi: 10.1002/gepi.20501.

Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants.
Li Y, Vinckenbosch N, Tian G, Huerta-Sanchez E, Jiang T, Jiang H, Albrechtsen A, Andersen G, Cao H, Korneliussen T, Grarup N, Guo Y, Hellman I, Jin X, Li Q, Liu J, Liu X, Sparsø T, Tang M, Wu H, Wu R, Yu C, et al.
Nat Genet. 2010 Nov;42(11):969-72. doi: 10.1038/ng.680. Epub 2010 Oct 3.

Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height.
Lanktree MB, Guo Y, Murtaza M, Glessner JT, Bailey SD, Onland-Moret NC, Lettre G, Ongen H, Rajagopalan R, Johnson T, Shen H, Nelson CP, Klopp N, Baumert J, Padmanabhan S, Pankratz N, Pankow JS, Shah S, Taylor K, Barnard J, Peters BJ, Maloney CM, et al.
Am J Hum Genet. 2011 Jan 7;88(1):6-18. doi: 10.1016/j.ajhg.2010.11.007. Epub 2010 Dec 30. Erratum in: Am J Hum Genet. 2012 Jun 8;90(6):1117. Tomaszweski, Maciej [corrected to Tomaszewski, Maciej].

Genome-wide association of bipolar disorder suggests an enrichment of replicable associations in regions near genes.
Smith EN, Koller DL, Panganiban C, Szelinger S, Zhang P, Badner JA, Barrett TB, Berrettini WH, Bloss CS, Byerley W, Coryell W, Edenberg HJ, Foroud T, Gershon ES, Greenwood TA, Guo Y, Hipolito M, Keating BJ, Lawson WB, Liu C, Mahon PB, McInnis MG, et al.
PLoS Genet. 2011 Jun;7(6):e1002134. doi: 10.1371/journal.pgen.1002134. Epub 2011 Jun 30.