Researcher Profile

Researcher Profile

Dajiang Liu, PhD, MA

Dajiang Liu, PhD, MA

Associate Professor, Department of Public Health Sciences
Division of Biostatistics and Bioinformatics
Associate Professor, Department of Biochemistry and Molecular Biology
Institute for Personalized Medicine
Assistant Professor, Department of Public Health Sciences
Center for Statistical Genetics
Scientific Program:Cancer Control
dxl46@psu.edu

Research Interests

Dr. Dajiang Liu's lab is a small research group at Penn State College of Medicine that works on statistical genetics, complex trait genetics and functional genomics. The lab actively develops novel methods and applies them to interesting datasets. It also generates datasets using high-throughput genotyping and sequencing.

The lab's statistical genetics research focuses on method development for analyzing large scale sequence-based association studies. The Liu lab developed the widely-used software package RAREMETAL and RVTESTS for association analysis and meta-analysis and is actively conducting research in this area to develop more efficient and powerful methods for studying the genetic basis for complex traits. 

Dr. Liu's lab develops computational methods to interpret the GWAS findings using integrative approaches and is also developing methods to study the functional genomics for X chromosome inactivation. 

The lab studies a few complex traits in great detail, including lipids and cardiovascular disease, smoking drinking addiction as well as lupus. Many of the applied projects offered interesting problems and motivated the lab's methodology research. 

  • Genes
  • Meta-Analysis
  • Exome
  • Genome
  • Lipids
  • Phenotype
  • Genotype
  • Population
  • Proteins
  • Genome-Wide Association Study
  • Nucleotides
  • Coronary Artery Disease

Recent Publications

2019

23andMe Research Team, HUNT All-In Psychiatry, Liu, M, Jiang, Y, Wedow, R, Li, Y, Brazel, DM, Chen, F, Datta, G, Davila-Velderrain, J, McGuire, D, Tian, C, Zhan, X, Agee, M, Alipanahi, B, Auton, A, Bell, RK, Bryc, K, Elson, SL, Fontanillas, P, Furlotte, NA, Hinds, DA, Hromatka, BS, Huber, KE, Kleinman, A, Litterman, NK, McIntyre, MH, Mountain, JL, Northover, CAM, Sathirapongsasuti, JF, Sazonova, OV, Shelton, JF, Shringarpure, S, Tian, C, Tung, JY, Vacic, V, Wilson, CH, Pitts, SJ, Mitchell, A, Skogholt, AH, Winsvold, BS, Sivertsen, B, Stordal, E, Morken, G, Kallestad, H, Heuch, I, Zwart, JA, Fjukstad, KK, Pedersen, LM, Gabrielsen, ME, Johnsen, MB & Liu, D 2019, 'Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use', Nature Genetics, vol. 51, no. 2, pp. 237-244. https://doi.org/10.1038/s41588-018-0307-5
CHD Exome+ Consortium, Consortium for Genetics of Smoking Behaviour, Brazel, DM, Jiang, Y, Hughey, JM, Turcot, V, Zhan, X, Gong, J, Batini, C, Weissenkampen, JD, Liu, MZ, Surendran, P, Young, R, Barnes, DR, Nielsen, SF, Rasheed, A, Samuel, M, Zhao, W, Kontto, J, Perola, M, Caslake, M, de Craen, AJM, Trompet, S, Uria-Nickelsen, M, Malarstig, A, Reily, DF, Hoek, M, Vogt, T, Jukema, JW, Sattar, N, Ford, I, Packard, CJ, Alam, DS, Majumder, AAS, Di Angelantonio, E, Chowdhury, R, Amouyel, P, Arveiler, D, Blankenberg, S, Ferrières, J, Kee, F, Kuulasmaa, K, Müller-Nurasyid, M, Veronesi, G, Virtamo, J, EPIC-CVD Consortium, C, Frossard, P, Nordestgaard, BG, Saleheen, D, Danesh, J, Butterworth, AS & Liu, D 2019, 'Exome Chip Meta-analysis Fine Maps Causal Variants and Elucidates the Genetic Architecture of Rare Coding Variants in Smoking and Alcohol Use', Biological Psychiatry, vol. 85, no. 11, pp. 946-955. https://doi.org/10.1016/j.biopsych.2018.11.024
Understanding Society Scientific Group, EPIC-CVD, GSCAN, Consortium for Genetics of Smoking Behaviour, CHD Exome+ consortium, Erzurumluoglu, AM, Liu, M, Jackson, VE, Barnes, DR, Datta, G, Melbourne, CA, Young, R, Batini, C, Surendran, P, Jiang, T, Adnan, SD, Afaq, S, Agrawal, A, Altmaier, E, Antoniou, AC, Asselbergs, FW, Baumbach, C, Bierut, L, Bertelsen, S, Boehnke, M, Bots, ML, Brazel, DM, Chambers, JC, Chang-Claude, J, Chen, C, Corley, J, Chou, YL, David, SP, de Boer, RA, de Leeuw, CA, Dennis, JG, Dominiczak, AF, Dunning, AM, Easton, DF, Eaton, C, Elliott, P, Evangelou, E, Faul, JD, Foroud, T, Goate, A, Gong, J, Grabe, HJ, Haessler, J, Haiman, C, Hallmans, G, Hammerschlag, AR, Harris, SE, Hattersley, A, Heath, A & Liu, D 2019, 'Meta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci' Molecular Psychiatry. https://doi.org/10.1038/s41380-018-0313-0
Weissenkampen, JD, Jiang, Y, Eckert, S, Jiang, B, Li, B & Liu, D 2019, 'Methods for the Analysis and Interpretation for Rare Variants Associated with Complex Traits' Current protocols in human genetics, vol. 101, no. 1, e83. https://doi.org/10.1002/cphg.83
T2D-Genes Consortium, The MAGIC Investigators, CHD Exome+ Consortium, Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium, EPIC-CVD Consortium, ExomeBP Consortium, Global Lipids Genetic Consortium, GoT2D Genes Consortium, InterAct & ReproGen Consortium 2019, 'Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution', Nature Genetics, vol. 51, no. 3, pp. 452-469. https://doi.org/10.1038/s41588-018-0334-2

2018

Wu, X, Guan, T, Liu, D, Novelo, LGL & Bandyopadhyay, D 2018, 'Adaptive-weight burden test for associations between quantitative traits and genotype data with complex correlations', Annals of Applied Statistics, vol. 12, no. 3, pp. 1558-1582. https://doi.org/10.1214/17-AOAS1121
The Geisinger-Regeneron DiscovEHR Collaboration, The VA Million Veteran Program, Global Lipids Genetics Consortium & Myocardial Infarction Genetics (MIGen) Consortium 2018, 'Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program', Nature Genetics, vol. 50, no. 11, pp. 1514-1523. https://doi.org/10.1038/s41588-018-0222-9
Jiang, Y, Chen, S, McGuire, D, Chen, F, Liu, M, Iacono, WG, Hewitt, JK, Hokanson, JE, Krauter, K, Laakso, M, Li, KW, Lutz, SM, McGue, M, Pandit, A, Zajac, GJM, Boehnke, M, Abecasis, GR, Vrieze, SI, Zhan, X, Jiang, B & Liu, D 2018, 'Proper conditional analysis in the presence of missing data: Application to large scale meta-analysis of tobacco use phenotypes', PLoS genetics, vol. 14, no. 7, e1007452. https://doi.org/10.1371/journal.pgen.1007452
Turcot, V, Lu, Y, Highland, HM, Schurmann, C, Justice, AE, Fine, RS, Bradfield, JP, Esko, T, Giri, A, Graff, M, Guo, X, Hendricks, AE, Karaderi, T, Lempradl, A, Locke, AE, Mahajan, A, Marouli, E, Sivapalaratnam, S, Young, KL, Alfred, T, Feitosa, MF, Masca, NGD, Manning, AK, Medina-Gomez, C, Mudgal, P, Ng, MCY, Reiner, AP, Vedantam, S, Willems, SM, Winkler, TW, Abecasis, G, Aben, KK, Alam, DS, Alharthi, SE, Allison, M, Amouyel, P, Asselbergs, FW, Auer, PL, Balkau, B, Bang, LE, Barroso, I, Bastarache, L, Benn, M, Bergmann, S, Bielak, LF, Blüher, M, Boehnke, M, Boeing, H, Boerwinkle, E, Böger, CA, Bork-Jensen, J, Bots, ML, Bottinger, EP, Bowden, DW, Brandslund, I, Breen, G, Brilliant, MH, Broer, L, Brumat, M, Burt, AA, Butterworth, AS, Campbell, PT, Cappellani, S, Carey, DJ, Catamo, E, Caulfield, MJ, Chambers, JC, Chasman, DI, Chen, YDI, Chowdhury, R, Christensen, C, Chu, AY, Cocca, M, Cook, JP, Corley, J, Corominas Galbany, J, Cox, AJ, Crosslin, DS, Cuellar-Partida, G, D'Eustacchio, A, Danesh, J, Davies, G, Bakker, PIW, Groot, MCH, Mutsert, R, Deary, IJ, Dedoussis, G, Demerath, EW, Heijer, M, Hollander, AI, Ruijter, HM, Dennis, JG, Denny, JC, Angelantonio, E, Drenos, F, Du, M, Dubé, MP, Dunning, AM, Easton, DF, Edwards, TL, Ellinghaus, D, Ellinor, PT, Elliott, P, Evangelou, E, Farmaki, AE, Farooqi, IS, Faul, JD, Fauser, S, Feng, S, Ferrannini, E, Ferrieres, J, Florez, JC, Ford, I, Fornage, M, Franco, OH, Franke, A, Franks, PW, Friedrich, N, Frikke-Schmidt, R, Galesloot, TE, Gan, W, Gandin, I, Gasparini, P, Gibson, J, Giedraitis, V, Gjesing, AP, Gordon-Larsen, P, Gorski, M, Grabe, HJ, Grant, SFA, Grarup, N, Griffiths, HL, Grove, ML, Gudnason, V, Gustafsson, S, Haessler, J, Hakonarson, H, Hammerschlag, AR, Hansen, T, Harris, KM, Harris, TB, Hattersley, AT, Have, CT, Hayward, C, He, L, Heard-Costa, NL, Heath, AC, Heid, IM, Helgeland, Ø, Hernesniemi, J, Hewitt, AW, Holmen, OL, Hovingh, GK, Howson, JMM, Hu, Y, Huang, PL, Huffman, JE, Ikram, MA, Ingelsson, E, Jackson, AU, Jansson, JH, Jarvik, GP, Jensen, GB, Jia, Y, Johansson, S, Jørgensen, ME, Jørgensen, T, Jukema, JW, Kahali, B, Kahn, RS, Kähönen, M, Kamstrup, PR, Kanoni, S, Kaprio, J, Karaleftheri, M, Kardia, SLR, Karpe, F, Kathiresan, S, Kee, F, Kiemeney, LA, Kim, E, Kitajima, H, Komulainen, P, Kooner, JS, Kooperberg, C, Korhonen, T, Kovacs, P, Kuivaniemi, H, Kutalik, Z, Kuulasmaa, K, Kuusisto, J, Laakso, M, Lakka, TA, Lamparter, D, Lange, EM, Lange, LA, Langenberg, C, Larson, EB, Lee, NR, Lehtimäki, T, Lewis, CE, Li, H, Li, J, Li-Gao, R, Lin, H, Lin, KH, Lin, LA, Lin, X, Lind, L, Lindström, J, Linneberg, A, Liu, CT, Liu, D, Liu, Y, Lo, KS, Lophatananon, A, Lotery, AJ, Loukola, A, Luan, JA, Lubitz, SA, Lyytikäinen, LP, Männistö, S, Marenne, G, Mazul, AL, McCarthy, MI, McKean-Cowdin, R, Medland, SE, Meidtner, K, Milani, L, Mistry, V, Mitchell, P, Mohlke, KL, Moilanen, L, Moitry, M, Montgomery, GW, Mook-Kanamori, DO, Moore, C, Mori, TA, Morris, AD, Morris, AP, Müller-Nurasyid, M, Munroe, PB, Nalls, MA, Narisu, N, Nelson, CP, Neville, M, Nielsen, SF, Nikus, K, Njølstad, PR, Nordestgaard, BG, Nyholt, DR, O'Connel, JR, O'Donoghue, ML, Olde Loohuis, LM, Ophoff, RA, Owen, KR, Packard, CJ, Padmanabhan, S, Palmer, CNA, Palmer, ND, Pasterkamp, G, Patel, AP, Pattie, A, Pedersen, O, Peissig, PL, Peloso, GM, Pennell, CE, Perola, M, Perry, JA, Perry, JRB, Pers, TH, Person, TN, Peters, A, Petersen, ERB, Peyser, PA, Pirie, A, Polasek, O, Polderman, TJ, Puolijoki, H, Raitakari, OT, Rasheed, A, Rauramaa, R, Reilly, DF, Renström, F, Rheinberger, M, Ridker, PM, Rioux, JD, Rivas, MA, Roberts, DJ, Robertson, NR, Robino, A, Rolandsson, O, Rudan, I, Ruth, KS, Saleheen, D, Salomaa, V, Samani, NJ, Sapkota, Y, Sattar, N, Schoen, RE, Schreiner, PJ, Schulze, MB, Scott, RA, Segura-Lepe, MP, Shah, SH, Sheu, WHH, Sim, X, Slater, AJ, Small, KS, Smith, AV, Southam, L, Spector, TD, Speliotes, EK, Starr, JM, Stefansson, K, Steinthorsdottir, V, Stirrups, KE, Strauch, K, Stringham, HM, Stumvoll, M, Sun, L, Surendran, P, Swift, AJ, Tada, H, Tansey, KE, Tardif, JC, Taylor, KD, Teumer, A, Thompson, DJ, Thorleifsson, G, Thorsteinsdottir, U, Thuesen, BH, Tönjes, A, Tromp, G, Trompet, S, Tsafantakis, E, Tuomilehto, J, Tybjaerg-Hansen, A, Tyrer, JP, Uher, R, Uitterlinden, AG, Uusitupa, M, Laan, SW, Duijn, CM, Leeuwen, N, Van Setten, J, Vanhala, M, Varbo, A, Varga, TV, Varma, R, Velez Edwards, DR, Vermeulen, SH, Veronesi, G, Vestergaard, H, Vitart, V, Vogt, TF, Völker, U, Vuckovic, D, Wagenknecht, LE, Walker, M, Wallentin, L, Wang, F, Wang, CA, Wang, S, Wang, Y, Ware, EB, Wareham, NJ, Warren, HR, Waterworth, DM, Wessel, J, White, HD, Willer, CJ, Wilson, JG, Witte, DR, Wood, AR, Wu, Y, Yaghootkar, H, Yao, J, Yao, P, Yerges-Armstrong, LM, Young, R, Zeggini, E, Zhan, X, Zhang, W, Zhao, JH, Zhao, W, Zhou, W, Zondervan, KT, Rotter, JI, Pospisilik, JA, Rivadeneira, F, Borecki, IB, Deloukas, P, Frayling, TM, Lettre, G, North, KE, Lindgren, CM, Hirschhorn, JN & Loos, RJF 2018, 'Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity', Nature Genetics, vol. 50, no. 1, pp. 26-35. https://doi.org/10.1038/s41588-017-0011-x
NHLBI GO Exome Sequencing Project, Pulmonary Arterial Hypertension (PAH), Severe Asthma Research Program (SARP), Women’s Health Initiative (WHI), Anthropometry Project Team, Blood Count/Hematology Project Team, Blood Pressure Project Team, Data Flow Working Group, Early MI Project Team, ELSI Working Group, Executive Committee, Family Study Project Team, Lipids Project Team, Lung Project Team, Personal Genomics Project Team, Phenotype and Harmonization Working Group, Population Genetics and Statistical Analysis Working Group, Publications and Presentations Working Group, Quantitative Analysis Ad Hoc Task Group, Sequencing and Genotyping Working Group, Steering Committee, Stroke Project Team, Structural Variation Working Group, Subclinical/Quantitative Project Team, Acute Lung Injury (ALI), Atherosclerosis Risk in Communities (ARIC), Cardiovascular Health Study (CHS), Chronic Obstructive Pulmonary Disease (COPDGene), Coronary Artery Risk Development in Young Adults (CARDIA), Cystic Fibrosis (CF), Early Pseudomonas Infection Control (EPIC), Framingham Heart Study (FHS), Jackson Heart Study (JHS), Lung Health Study (LHS) & Multi-Ethnic Study of Atherosclerosis (MESA) 2018, 'Rare loss of function variants in candidate genes and risk of colorectal cancer', Human genetics, vol. 137, no. 10, pp. 795-806. https://doi.org/10.1007/s00439-018-1938-4
ExomeBP Consortium, MAGIC Consortium & GIANT Consortium 2018, 'Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes article', Nature Genetics, vol. 50, no. 4, pp. 559-571. https://doi.org/10.1038/s41588-018-0084-1

2017

Lee, S, Zhu, J, Salzberg, AC, Zhang, B, Liu, D, Muscat, J, Langan, ST & Connor, J 2017, 'Analysis of single nucleotide variants of HFE gene and association to survival in the Cancer Genome Atlas GBM data', PloS one, vol. 12, no. 3, e0174778. https://doi.org/10.1371/journal.pone.0174778
Khera, AV, Won, HH, Peloso, GM, O'Dushlaine, C, Liu, D, Stitziel, NO, Natarajan, P, Nomura, A, Emdin, CA, Gupta, N, Borecki, IB, Asselta, R, Duga, S, Merlini, PA, Correa, A, Kessler, T, Wilson, JG, Bown, MJ, Hall, AS, Braund, PS, Carey, DJ, Murray, MF, Kirchner, HL, Leader, JB, Lavage, DR, Manus, JN, Hartzel, DN, Samani, NJ, Schunkert, H, Marrugat, J, Elosua, R, McPherson, R, Farrall, M, Watkin, H, Lander, ES, Rader, DJ, Danesh, J, Ardissino, D, Gabriel, S, Willer, C, Abecasis, GR, Saleheen, D, Dewey, FE & Kathiresan, S 2017, 'Association of rare and common variation in the lipoprotein lipase gene with coronary artery disease', JAMA - Journal of the American Medical Association, vol. 317, no. 9, pp. 937-946. https://doi.org/10.1001/jama.2017.0972
Russo, M, Broach, J, Sheldon, K, Houser, KR, Liu, D, Kesterson, J, Phaeton, R, Hossler, C, Hempel, N, Baker, M, Newell, J, Zaino, R & Warrick, J 2017, 'Clonal evolution in paired endometrial intraepithelial neoplasia/atypical hyperplasia and endometrioid adenocarcinoma', Human Pathology, vol. 67, pp. 69-77. https://doi.org/10.1016/j.humpath.2017.07.003
Lu, X, Peloso, GM, Liu, D, Wu, Y, Zhang, H, Zhou, W, Li, J, Tang, CSM, Dorajoo, R, Li, H, Long, J, Guo, X, Xu, M, Spracklen, CN, Chen, Y, Liu, X, Zhang, Y, Khor, CC, Liu, J, Sun, L, Wang, L, Gao, YT, Hu, Y, Yu, K, Wang, Y, Cheung, CYY, Wang, F, Huang, J, Fan, Q, Cai, Q, Chen, S, Shi, J, Yang, X, Zhao, W, Sheu, WHH, Cherny, SS, He, M, Feranil, AB, Adair, LS, Gordon-Larsen, P, Du, S, Varma, R, Chen, YDI, Shu, XO, Lam, KSL, Wong, TY, Ganesh, SK, Mo, Z, Hveem, K, Fritsche, LG, Nielsen, JB, Tse, HF, Huo, Y, Cheng, CY, Chen, YE, Zheng, W, Tai, ES, Gao, W, Lin, X, Huang, W, Abecasis, G, Kathiresan, S, Mohlke, KL, Wu, T, Sham, PC, Gu, D & Willer, CJ 2017, 'Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease', Nature Genetics, vol. 49, no. 12, pp. 1722-1730. https://doi.org/10.1038/ng.3978
Liu, D, Peloso, GM, Yu, H, Butterworth, AS, Wang, X, Mahajan, A, Saleheen, D, Emdin, C, Alam, D, Alves, AC, Amouyel, P, Angelantonio, EDI, Arveiler, D, Assimes, TL, Auer, PL, Baber, U, Ballantyne, CM, Bang, LE, Benn, M, Bis, JC, Boehnke, M, Boerwinkle, E, Bork-Jensen, J, Bottinger, EP, Brandslund, I, Brown, M, Busonero, F, Caulfield, MJ, Chambers, JC, Chasman, DI, Chen, YE, Chen, YDI, Chowdhury, R, Christensen, C, Chu, AY, Connell, JM, Cucca, F, Cupples, LA, Damrauer, SM, Davies, G, Deary, IJ, Dedoussis, G, Denny, JC, Dominiczak, A, Dubé, MP, Ebeling, T, Eiriksdottir, G, Esko, T, Farmaki, AE, Feitosa, MF, Ferrario, M, Ferrieres, J, Ford, I, Fornage, M, Franks, PW, Frayling, TM, Frikke-Schmidt, R, Fritsche, LG, Frossard, P, Fuster, V, Ganesh, SK, Gao, W, Garcia, ME, Gieger, C, Giulianini, F, Goodarzi, MO, Grallert, H, Grarup, N, Groop, L, Grove, ML, Gudnason, V, Hansen, T, Harris, TB, Hayward, C, Hirschhorn, JN, Holmen, OL, Huffman, J, Huo, Y, Hveem, K, Jabeen, S, Jackson, AU, Jakobsdottir, J, Jarvelin, MR, Jensen, GB, Jørgensen, ME, Jukema, JW, Justesen, JM, Kamstrup, PR, Kanoni, S, Karpe, F, Kee, F, Khera, AV, Klarin, D, Koistinen, HA, Kooner, JS, Kooperberg, C, Kuulasmaa, K, Kuusisto, J, Laakso, M, Lakka, T, Langenberg, C, Langsted, A, Launer, LJ, Lauritzen, T, MLiewald, DC, Lin, LA, Linneberg, A, Loos, RJF, Lu, Y, Lu, X, Mägi, R, Malarstig, A, Manichaikul, A, Manning, AK, Mäntyselkä, P, Marouli, E, Masca, NGD, Maschio, A, Meigs, JB, Melander, O, Metspalu, A, Morris, AP, Morrison, AC, Mulas, A, Müller-Nurasyid, M, Munroe, PB, Neville, MJ, Nielsen, SF, Nielsen, JB, Nordestgaard, BG, Ordovas, JM, Mehran, R, O'Donnell, CJ, Orho-Melander, M, Molony, CM, Muntendam, P, Padmanabhan, S, Palmer, CNA, Pasko, D, Patel, AP, Pedersen, O, Perola, M, Peters, A, Pisinger, C, Pistis, G, Polasek, O, Poulter, N, Psaty, BM, Rader, DJ, Rasheed, A, Rauramaa, R, Reilly, DF, Reiner, AP, Renström, F, Rich, SS, Ridker, PM, Rioux, JD, Robertson, NR, Roden, DM, Rotter, JI, Rudan, I, Salomaa, V, Samani, NJ, Sanna, S, Sattar, N, Schmidt, EM, Scott, RA, Sever, P, Sevilla, RS, Shaffer, CM, Sim, X, Sivapalaratnam, S, Small, KS, Smith, AV, Smith, BH, Somayajula, S, Southam, L, Spector, TD, Speliotes, EK, Starr, JM, Stirrups, KE, Stitziel, N, Strauch, K, Stringham, HM, Surendran, P, Tada, H, Tall, AR, Tang, H, Tardif, JC, Taylor, KD, Trompet, S, Tsao, PS, Tuomilehto, J, Tybjaerg-Hansen, A, Zuydam, NRV, Varbo, A, Varga, TV, Virtamo, J, Waldenberger, M, Wang, N, Wareham, NJ, Warren, HR, Weeke, PE, Weinstock, J, Wessel, J, Wilson, JG, Wilson, PWF, Xu, M, Yaghootkar, H, Young, R, Zeggini, E, Zhang, H, Zheng, NS, Zhang, W, Zhang, Y, Zhou, W, Zhou, Y, Zoledziewska, M, Howson, JMM, Danesh, J, McCarthy, MI, Cowan, CA, Abecasis, G, Deloukas, P, Musunuru, K, Willer, CJ & Kathiresan, S 2017, 'Exome-wide association study of plasma lipids in >300,000 individuals', Nature Genetics, vol. 49, no. 12, pp. 1758-1766. https://doi.org/10.1038/ng.3977
MAGIC Investigators, The EPIC-InterAct Consortium, EPIC-CVD Consortium, CHD Exome+ Consortium, ExomeBP Consortium, T2D-Genes Consortium, GoT2D Genes Consortium, Global Lipids Genetics Consortium & ReproGen Consortium 2017, 'Rare and low-frequency coding variants alter human adult height', Nature, vol. 542, no. 7640, pp. 186-190. https://doi.org/10.1038/nature21039
Li, M, Li, J, Li, MJ, Pan, Z, Hsu, JS, Liu, D, Zhan, X, Junwen, W, Youqiang, S & Sham, PC 2017, 'Robust and rapid algorithms facilitate large-scale whole genome sequencing downstream analysis in an integrative framework', Nucleic acids research, vol. 45, no. 9, e75. https://doi.org/10.1093/nar/gkx019
Zhang, D, Zhao, L, Li, B, He, Z, Wang, GT, Liu, D & Leal, SM 2017, 'SEQSpark: A Complete Analysis Tool for Large-Scale Rare Variant Association Studies Using Whole-Genome and Exome Sequence Data', American Journal of Human Genetics, vol. 101, no. 1, pp. 115-122. https://doi.org/10.1016/j.ajhg.2017.05.017

2016

on behalf of the Global Lipids Genetics Consortium and International Stroke Genetics Consortium 2016, 'Genetic variants in CETP increase risk of intracerebral hemorrhage', Annals of Neurology, vol. 80, no. 5, pp. 730-740. https://doi.org/10.1002/ana.24780
Eicher, JD, Chami, N, Kacprowski, T, Nomura, A, Chen, MH, Yanek, LR, Tajuddin, SM, Schick, UM, Slater, AJ, Pankratz, N, Polfus, L, Schurmann, C, Giri, A, Brody, JA, Lange, LA, Manichaikul, A, Hill, WD, Pazoki, R, Elliot, P, Evangelou, E, Tzoulaki, I, Gao, H, Vergnaud, AC, Mathias, RA, Becker, DM, Becker, LC, Burt, A, Crosslin, DR, Lyytikäinen, LP, Nikus, K, Hernesniemi, J, Kähönen, M, Raitoharju, E, Mononen, N, Raitakari, OT, Lehtimäki, T, Cushman, M, Zakai, NA, Nickerson, DA, Raffield, LM, Quarells, R, Willer, CJ, Peloso, GM, Abecasis, GR, Liu, D, Deloukas, P, Samani, NJ, Schunkert, H, Erdmann, J, Fornage, M, Richard, M, Tardif, JC, Rioux, JD, Dube, MP, de Denus, S, Lu, Y, Bottinger, EP, Loos, RJF, Smith, AV, Harris, TB, Launer, LJ, Gudnason, V, Velez Edwards, DR, Torstenson, ES, Liu, Y, Tracy, RP, Rotter, JI, Rich, SS, Highland, HM, Boerwinkle, E, Li, J, Lange, E, Wilson, JG, Mihailov, E, Mägi, R, Hirschhorn, J, Metspalu, A, Esko, T, Vacchi-Suzzi, C, Nalls, MA, Zonderman, AB, Evans, MK, Engström, G, Orho-Melander, M, Melander, O, O'Donoghue, ML, Waterworth, DM, Wallentin, L, White, HD, Floyd, JS, Bartz, TM, Rice, KM, Psaty, BM, Starr, JM, Liewald, DCM, Hayward, C, Deary, IJ, Greinacher, A, Völker, U, Thiele, T, Völzke, H, van Rooij, FJA, Uitterlinden, AG, Franco, OH, Dehghan, A, Edwards, TL, Ganesh, SK, Kathiresan, S, Faraday, N, Auer, PL, Reiner, AP, Lettre, G & Johnson, AD 2016, 'Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals', American Journal of Human Genetics, vol. 99, no. 1, pp. 40-55. https://doi.org/10.1016/j.ajhg.2016.05.005
Zhan, X, Hu, Y, Li, B, Abecasis, GR & Liu, D 2016, 'RVTESTS: An efficient and comprehensive tool for rare variant association analysis using sequence data', Bioinformatics, vol. 32, no. 9, pp. 1423-1426. https://doi.org/10.1093/bioinformatics/btw079
Zanoni, P, Khetarpal, SA, Larach, DB, Hancock-Cerutti, WF, Millar, JS, Cuchel, M, DerOhannessian, S, Kontush, A, Surendran, P, Saleheen, D, Trompet, S, Wouter Jukema, J, De Craen, A, Deloukas, P, Sattar, N, Ford, I, Packard, C, Majumder, AAS, Alam, DS, Di Angelantonio, E, Abecasis, G, Chowdhury, R, Erdmann, J, Nordestgaard, BG, Nielsen, SF, Tybjærg-Hansen, A, Ruth Frikke Schmidt, FS, Kuulasmaa, K, Liu, D, Perola, M, Blankenberg, S, Salomaa, V, Männistö, S, Amouyel, P, Arveiler, D, Ferrieres, J, Möller-Nurasyid, M, Ferrario, M, Kee, F, Willer, CJ, Samani, N, Schunkert, H, Butterworth, AS, Howson, JMM, Peloso, GM, Stitziel, NO, Danesh, J, Kathiresan, S & Rader, DJ 2016, 'Rare variant in scavenger receptor BI raises HDL cholesterol and increases risk of coronary heart disease', Science, vol. 351, no. 6278, pp. 1166-1171. https://doi.org/10.1126/science.aad3517

2015

Feng, S, Pistis, G, Zhang, H, Zawistowski, M, Mulas, A, Zoledziewska, M, Holmen, OL, Busonero, F, Sanna, S, Hveem, K, Willer, C, Cucca, F, Liu, D & Abecasis, GR 2015, 'Methods for association analysis and meta-analysis of rare variants in families' Genetic Epidemiology, vol. 39, no. 4, pp. 227-238. https://doi.org/10.1002/gepi.21892
Liu, D & Leal, SM 2015, Replicating sequencing-based association studies of rare variants. in Assessing Rare Variation in Complex Traits: Design and Analysis of Genetic Studies. Springer New York, pp. 201-213. https://doi.org/10.1007/978-1-4939-2824-8_14
Zhan, X & Liu, D 2015, 'SEQMINER: An R-Package to Facilitate the Functional Interpretation of Sequence-Based Associations', Genetic Epidemiology, vol. 39, no. 8, pp. 619-623. https://doi.org/10.1002/gepi.21918

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