연구동향 분석
박사

Analysis strategy and method to improve accuracy of imputation on rare variants : 희귀변이의 임퓨테이션 정확도 향상을 위한 분석 전략 및 방법 연구

김영진 2015년

논문상세정보
인용/피인용
' Analysis strategy and method to improve accuracy of imputation on rare variants : 희귀변이의 임퓨테이션 정확도 향상을 위한 분석 전략 및 방법 연구' 의 주제별 논문영향력
논문영향력 선정 방법
논문영향력 요약
주제
  • association
  • genome-wide association study
  • imputation
  • rare variant
  • snp
동일주제 총논문수 논문피인용 총횟수 주제별 논문영향력의 평균
333 0

0.0%

' Analysis strategy and method to improve accuracy of imputation on rare variants : 희귀변이의 임퓨테이션 정확도 향상을 위한 분석 전략 및 방법 연구' 의 참고문헌

  • van Beek, J. H., M. H. de Moor, E. J. de Geus, G. H. Lubke, J. M. Vink, G. Willemsen and D. I. Boomsma (2013). "The genetic architecture of liver enzyme levels: GGT, ALT and AST." Behav Genet 43(4): 329-39.
  • Zuk, O., S. F. Schaffner, K. Samocha, R. Do, E. Hechter, S. Kathiresan, M. J. Daly, B. M. Neale, S. R. Sunyaev and E. S. Lander "Searching for missing heritability: designing rare variant association studies." Proc Natl Acad Sci U S A 111(4): E455-64.
  • Yuan, X., D. Waterworth, J. R. Perry, N. Lim, K. Song, J. C. Chambers, W. Zhang, P. Vollenweider, H. Stirnadel, T. Johnson, S. Bergmann, N. D. Beckmann, Y. Li, L. Ferrucci, D. Melzer, D. Hernandez, A. Singleton, J. Scott, P. Elliott, G. Waeber, et al. (2008). "Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes." Am J Hum Genet 83(4): 520-8.
  • Wu, M. C., S. Lee, T. Cai, Y. Li, M. Boehnke and X. Lin (2011). "Rare-variant association testing for sequencing data with the sequence kernel association test." Am J Hum Genet 89(1): 82-93.
  • Willer, C. J., Y. Li and G. R. Abecasis (2010). "METAL: fast and efficient metaanalysis of genomewide association scans." Bioinformatics 26(17): 2190-1.
  • Whitfield, J. B., G. Zhu, J. E. Nestler, A. C. Heath and N. G. Martin (2002). "Genetic covariation between serum gamma-glutamyltransferase activity and cardiovascular risk factors." Clin Chem 48(9): 1426-31.
  • Whitfield, J. B. and N. G. Martin (1985). "Individual differences in plasma ALT, AST and GGT: contributions of genetic and environmental factors, including alcohol consumption." Enzyme 33(2): 61-9.
  • Welter, D., J. MacArthur, J. Morales, T. Burdett, P. Hall, H. Junkins, A. Klemm, P. Flicek, T. Manolio, L. Hindorff and H. Parkinson (2014). "The NHGRI GWAS Catalog, a curated resource of SNP-trait associations." Nucleic Acids Res 42(Database issue): D1001-6.
  • Visscher, P. M., S. E. Medland, M. A. Ferreira, K. I. Morley, G. Zhu, B. K. Cornes, G. W. Montgomery and N. G. Martin (2006). "Assumption-free estimation of heritability from genome-wide identity-by-descent sharing between full siblings." PLoS Genet 2(3): e41.
  • Vernon, G., A. Baranova and Z. M. Younossi (2011). "Systematic review: the epidemiology and natural history of non-alcoholic fatty liver disease and non-alcoholic steatohepatitis in adults." Aliment Pharmacol Ther 34(3): 274-85.
  • Thompson, J. R., J. Attia and C. Minelli (2011). "The meta-analysis of genome-wide association studies." Brief Bioinform 12(3): 259-69.
  • Targher, G., M. Chonchol, L. Miele, G. Zoppini, I. Pichiri and M. Muggeo (2009). "Nonalcoholic fatty liver disease as a contributor to hypercoagulation and thrombophilia in the metabolic syndrome." Semin Thromb Hemost 35(3): 277-87.
  • Tang, G. Lettre, A. P. Reiner, et al. (2012). "Imputation of exome sequence variants into population- based samples and blood-cell-trait-associated loci in African Americans: NHLBI GO Exome Sequencing Project." Am J Hum Genet 91(5): 794-808.
  • Taliun, D., J. Gamper and C. Pattaro (2014). "Efficient haplotype block recognition of very long and dense genetic sequences." BMC Bioinformatics 15: 10.
  • Sveinbjornsson, G., E. Mikaelsdottir, R. Palsson, O. S. Indridason, H. Holm, A. Jonasdottir, A. Helgason, S. Sigurdsson, A. Sigurdsson, G. I. Eyjolfsson, O. Sigurdardottir, O. T. Magnusson, A. Kong, G. Masson, P. Sulem, I. Olafsson, U. Thorsteinsdottir, D. F. Gudbjartsson and K. Stefansson "Rare mutations associating with serum creatinine and chronic kidney disease." Hum Mol Genet.
  • Sung, Y. J., L. Wang, T. Rankinen, C. Bouchard and D. C. Rao (2012). "Performance of genotype imputations using data from the 1000 Genomes Project." Hum Hered 73(1): 18-25.
  • Sung, J., K. Lee and Y. M. Song (2010). "Heritabilities of Alcohol Use Disorders Identification Test (AUDIT) scores and alcohol biomarkers in Koreans: the KoGES (Korean Genome Epi Study) and Healthy Twin Study." Drug Alcohol Depend 113(2-3): 104-9.
  • Scott, R. A., V. Lagou, R. P. Welch, E. Wheeler, M. E. Montasser, J. Luan, R. Magi, R. J. Strawbridge, E. Rehnberg, S. Gustafsson, S. Kanoni, L. J. Rasmussen- Torvik, L. Yengo, C. Lecoeur, D. Shungin, S. Sanna, C. Sidore, P. C. Johnson, J. W. Jukema, T. Johnson, et al. "Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways." Nat Genet 44(9): 991-1005.
  • Schindhelm, R. K., M. Diamant, J. M. Dekker, M. E. Tushuizen, T. Teerlink and R. J. Heine (2006). "Alanine aminotransferase as a marker of non-alcoholic fatty liver disease in relation to type 2 diabetes mellitus and cardiovascular disease." Diabetes Metab Res Rev 22(6): 437-43.
  • Rahmioglu, N., T. Andrew, L. Cherkas, G. Surdulescu, R. Swaminathan, T. Spector and K. R. Ahmadi (2009). "Epidemiology and genetic epidemiology of the liver function test proteins." PLoS One 4(2): e4435.
  • Purcell, S. M., J. L. Moran, M. Fromer, D. Ruderfer, N. Solovieff, P. Roussos, C. O'Dushlaine, K. Chambert, S. E. Bergen, A. Kahler, L. Duncan, E. Stahl, G. Genovese, E. Fernandez, M. O. Collins, N. H. Komiyama, J. S. Choudhary, P. K. Magnusson, E. Banks, K. Shakir, et al. (2014). "A polygenic burden of rare disruptive mutations in schizophrenia." Nature 506(7487): 185-90.
  • Pratt, D. S. and M. M. Kaplan (2000). "Evaluation of abnormal liver-enzyme results in asymptomatic patients." N Engl J Med 342(17): 1266-71.
  • Pilia, G., W. M. Chen, A. Scuteri, M. Orru, G. Albai, M. Dei, S. Lai, G. Usala, M. Lai, P. Loi, C. Mameli, L. Vacca, M. Deiana, N. Olla, M. Masala, A. Cao, S. S. Najjar, A. Terracciano, T. Nedorezov, A. Sharov, et al. (2006). "Heritability of cardiovascular and personality traits in 6,148 Sardinians." PLoS Genet 2(8): e132.
  • Peloso, G. M., P. L. Auer, J. C. Bis, A. Voorman, A. C. Morrison, N. O. Stitziel, J. A. Brody, S. A. Khetarpal, J. R. Crosby, M. Fornage, A. Isaacs, J. Jakobsdottir, M. F. Feitosa, G. Davies, J. E. Huffman, A. Manichaikul, B. Davis, K. Lohman, A. Y. Joon, A. V. Smith, et al. "Association of lowfrequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks." Am J Hum Genet 94(2): 223-32.
  • Pei, Y. F., J. Li, L. Zhang, C. J. Papasian and H. W. Deng (2008). "Analyses and comparison of accuracy of different genotype imputation methods." PLoS One 3(10): e3551.
  • Pasaniuc, B., N. Rohland, P. J. McLaren, K. Garimella, N. Zaitlen, H. Li, N. Gupta, B. M. Neale, M. J. Daly, P. Sklar, P. F. Sullivan, S. Bergen, J. L. Moran, C. M. Hultman, P. Lichtenstein, P. Magnusson, S. M. Purcell, D. W. Haas, L. Liang, S. Sunyaev, et al. (2012). "Extremely low-coverage sequencing and imputation increases power for genome-wide association studies." Nat Genet 44(6): 631-5.
  • Oliveira, M. N., J. P. Hemerly, A. U. Bastos, R. Tamanaha, F. R. Latini, C. P. Camacho, A. Impellizzeri, R. M. Maciel and J. M. Cerutti (2011). "The RET p.G533C mutation confers predisposition to multiple endocrine neoplasia type 2A in a Brazilian kindred and is able to induce a malignant phenotype in vitro and in vivo." Thyroid 21(9): 975-85.
  • Nilsson, S. E., S. Read, S. Berg and B. Johansson (2009). "Heritabilities for fifteen routine biochemical values: findings in 215 Swedish twin pairs 82 years of age or older." Scand J Clin Lab Invest 69(5): 562-9.
  • Nelson, S. C., K. F. Doheny, E. W. Pugh, J. M. Romm, H. Ling, C. A. Laurie, S. R. Browning, B. S. Weir and C. C. Laurie "Imputation-based genomic coverage assessments of current human genotyping arrays." G3 (Bethesda) 3(10): 1795-807.
  • Morrison, A. C., A. Voorman, A. D. Johnson, X. Liu, J. Yu, A. Li, D. Muzny, F. Yu, K. Rice, C. Zhu, J. Bis, G. Heiss, C. J. O'Donnell, B. M. Psaty, L. A. Cupples, R. Gibbs and E. Boerwinkle (2013). "Whole-genome sequence-based analysis of high-density lipoprotein cholesterol." Nat Genet 45(8): 899-901.
  • McKenna, A., M. Hanna, E. Banks, A. Sivachenko, K. Cibulskis, A. Kernytsky, K. Garimella, D. Altshuler, S. Gabriel, M. Daly and M. A. DePristo (2010). "The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data." Genome Res 20(9): 1297-303.
  • Martin, A. R., G. Tse, C. D. Bustamante and E. E. Kenny "Imputation-based assessment of next generation rare exome variant arrays." Pac Symp Biocomput: 241-52.
  • Marchini, J. and B. Howie (2010). "Genotype imputation for genome-wide association studies." Nat Rev Genet 11(7): 499-511.
  • Marchini, J. and B. Howie "Genotype imputation for genome-wide association studies." Nat Rev Genet 11(7): 499-511.
  • Manolio, T. A., F. S. Collins, N. J. Cox, D. B. Goldstein, L. A. Hindorff, D. J. Hunter, M. I. McCarthy, E. M. Ramos, L. R. Cardon, A. Chakravarti, J. H. Cho, A. E. Guttmacher, A. Kong, L. Kruglyak, E. Mardis, C. N. Rotimi, M. Slatkin, D. Valle, A. S. Whittemore, M. Boehnke, et al. (2009). "Finding the missing heritability of complex diseases." Nature 461(7265): 747-53.
  • Makkonen, J., K. H. Pietilainen, A. Rissanen, J. Kaprio and H. Yki-Jarvinen (2009). "Genetic factors contribute to variation in serum alanine aminotransferase activity independent of obesity and alcohol: a study in monozygotic and dizygotic twins." J Hepatol 50(5): 1035-42.
  • Magi, R., J. L. Asimit, A. G. Day-Williams, E. Zeggini and A. P. Morris (2012). "Genome-Wide Association Analysis of Imputed Rare Variants: Application to Seven Common Complex Diseases." Genet Epidemiol.
  • Magi, R., J. L. Asimit, A. G. Day-Williams, E. Zeggini and A. P. Morris "Genome- Wide Association Analysis of Imputed Rare Variants: Application to Seven Common Complex Diseases." Genet Epidemiol.
  • Loomba, R., F. Rao, L. Zhang, S. Khandrika, M. G. Ziegler, D. A. Brenner and D. T. O'Connor (2010). "Genetic covariance between gamma-glutamyl transpeptidase and fatty liver risk factors: role of beta2-adrenergic receptor genetic variation in twins." Gastroenterology 139(3): 836-45, 845 e1.
  • Lin, J. P., C. J. O'Donnell, C. S. Fox and L. A. Cupples (2009). "Heritability of serum gamma-glutamyltransferase level: genetic analysis from the Framingham Offspring Study." Liver Int 29(5): 776-7.
  • Li, Y., C. J. Willer, J. Ding, P. Scheet and G. R. Abecasis "MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes." Genet Epidemiol 34(8): 816-34.
  • Li, L., Y. Li, S. R. Browning, B. L. Browning, A. J. Slater, X. Kong, J. L. Aponte, V. E. Mooser, S. L. Chissoe, J. C. Whittaker, M. R. Nelson and M. G. Ehm (2011). "Performance of genotype imputation for rare variants identified in exons and flanking regions of genes." PLoS One 6(9): e24945.
  • Li, L., Y. Li, S. R. Browning, B. L. Browning, A. J. Slater, X. Kong, J. L. Aponte, V. E. Mooser, S. L. Chissoe, J. C. Whittaker, M. R. Nelson and M. G. Ehm "Performance of genotype imputation for rare variants identified in exons and flanking regions of genes." PLoS One 6(9): e24945.
  • Li, B. and S. M. Leal (2008). "Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data." Am J Hum Genet 83(3): 311-21.
  • Lee, T. H., W. R. Kim, J. T. Benson, T. M. Therneau and L. J. Melton, 3rd (2008). "Serum aminotransferase activity and mortality risk in a United States community." Hepatology 47(3): 880-7.
  • Lee, S., M. C. Wu and X. Lin (2012). "Optimal tests for rare variant effects in sequencing association studies." Biostatistics 13(4): 762-75.
  • Lango Allen, H., K. Estrada, G. Lettre, S. I. Berndt, M. N. Weedon, F. Rivadeneira, C. J. Willer, A. U. Jackson, S. Vedantam, S. Raychaudhuri, T. Ferreira, A. R. Wood, R. J. Weyant, A. V. Segre, E. K. Speliotes, E. Wheeler, N. Soranzo, J. H. Park, J. Yang, D. Gudbjartsson, et al. (2010). "Hundreds of variants clustered in genomic loci and biological pathways affect human height." Nature 467(7317): 832-8.
  • Lange, L. A., Y. Hu, H. Zhang, C. Xue, E. M. Schmidt, Z. Z. Tang, C. Bizon, E. M. Lange, J. D. Smith, E. H. Turner, G. Jun, H. M. Kang, G. Peloso, P. Auer, K. P. Li, J. Flannick, J. Zhang, C. Fuchsberger, K. Gaulton, C. Lindgren, et al. (2014). "Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol." Am J Hum Genet 94(2): 233-45.
  • Kreiner-Moller, E., C. Medina-Gomez, A. G. Uitterlinden, F. Rivadeneira and K. Estrada "Improving accuracy of rare variant imputation with a two-step imputation approach." Eur J Hum Genet. Lander, E. S. (2011). "Initial impact of the sequencing of the human genome." Nature 470(7333): 187-97.
  • Klein, R. J., C. Zeiss, E. Y. Chew, J. Y. Tsai, R. S. Sackler, C. Haynes, A. K. Henning, J. P. SanGiovanni, S. M. Mane, S. T. Mayne, M. B. Bracken, F. L. Ferris, J. Ott, C. Barnstable and J. Hoh (2005). "Complement factor H polymorphism in age-related macular degeneration." Science 308(5720): 385-9.
  • Kim, Y. J., M. J. Go, C. Hu, C. B. Hong, Y. K. Kim, J. Y. Lee, J. Y. Hwang, J. H. Oh, D. J. Kim, N. H. Kim, S. Kim, E. J. Hong, J. H. Kim, H. Min, Y. Kim, R. Zhang, W. Jia, Y. Okada, A. Takahashi, M. Kubo, et al. (2011). "Largescale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits." Nat Genet 43(10): 990-5.
  • Joshi, P. K., J. Prendergast, R. M. Fraser, J. E. Huffman, V. Vitart, C. Hayward, R. McQuillan, D. Glodzik, O. Polasek, N. D. Hastie, I. Rudan, H. Campbell, A. F. Wright, C. S. Haley, J. F. Wilson and P. Navarro (2013). "Local exome sequences facilitate imputation of less common variants and increase power of genome wide association studies." PLoS One 8(7): e68604.
  • Joshi, P. K., J. Prendergast, R. M. Fraser, J. E. Huffman, V. Vitart, C. Hayward, R. McQuillan, D. Glodzik, O. Polasek, N. D. Hastie, I. Rudan, H. Campbell, A. F. Wright, C. S. Haley, J. F. Wilson and P. Navarro "Local exome sequences facilitate imputation of less common variants and increase power of genome wide association studies." PLoS One 8(7): e68604.
  • Huyghe, J. R., A. U. Jackson, M. P. Fogarty, M. L. Buchkovich, A. Stancakova, H. M. Stringham, X. Sim, L. Yang, C. Fuchsberger, H. Cederberg, P. S. Chines, T. M. Teslovich, J. M. Romm, H. Ling, I. McMullen, R. Ingersoll, E. W. Pugh, K. F. Doheny, B. M. Neale, M. J. Daly, et al. "Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion." Nat Genet 45(2): 197-201.
  • Huang, J., D. Ellinghaus, A. Franke, B. Howie and Y. Li (2012). "1000 Genomesbased imputation identifies novel and refined associations for the Wellcome Trust Case Control Consortium phase 1 Data." Eur J Hum Genet 20(7): 801- 5.
  • Howie, B., J. Marchini and M. Stephens (2011). "Genotype imputation with thousands of genomes." G3 (Bethesda) 1(6): 457-70.
  • Howie, B., C. Fuchsberger, M. Stephens, J. Marchini and G. R. Abecasis (2012). "Fast and accurate genotype imputation in genome-wide association studies through pre-phasing." Nat Genet 44(8): 955-9.
  • Howie, B., C. Fuchsberger, M. Stephens, J. Marchini and G. R. Abecasis "Fast and accurate genotype imputation in genome-wide association studies through pre-phasing." Nat Genet 44(8): 955-9.
  • Holmen, O. L., H. Zhang, Y. Fan, D. H. Hovelson, E. M. Schmidt, W. Zhou, Y. Guo, J. Zhang, A. Langhammer, M. L. Lochen, S. K. Ganesh, L. Vatten, F. Skorpen, H. Dalen, S. Pennathur, J. Chen, C. Platou, E. B. Mathiesen, T. Wilsgaard, I. Njolstad, et al. "Systematic evaluation of coding variation identifies a candidate causal variant in TM6SF2 influencing total cholesterol and myocardial infarction risk." Nat Genet 46(4): 345-51.
  • Hirschhorn, J. N. and M. J. Daly (2005). "Genome-wide association studies for common diseases and complex traits." Nat Rev Genet 6(2): 95-108.
  • Hindorff, L., J. MacArthur, J. Morales, H. Junkins, P. Hall, A. Klemm and T. Manolio "A Catalog of Published Genome-Wide Association Studies. Available at:www.genome.gov/gwasudies. Accessed [6th Mar 2014]."
  • Hindorff, L. A., P. Sethupathy, H. A. Junkins, E. M. Ramos, J. P. Mehta, F. S. Collins and T. A. Manolio (2009). "Potential etiologic and functional implications of genome-wide association loci for human diseases and traits." Proc Natl Acad Sci U S A 106(23): 9362-7.
  • Hao, K., E. Chudin, J. McElwee and E. E. Schadt (2009). "Accuracy of genomewide imputation of untyped markers and impacts on statistical power for association studies." BMC Genet 10: 27.
  • Haines, J. L., M. A. Hauser, S. Schmidt, W. K. Scott, L. M. Olson, P. Gallins, K. L. Spencer, S. Y. Kwan, M. Noureddine, J. R. Gilbert, N. Schnetz-Boutaud, A. Agarwal, E. A. Postel and M. A. Pericak-Vance (2005). "Complement factor H variant increases the risk of age-related macular degeneration." Science 308(5720): 419-21.
  • Gorlov, I. P., O. Y. Gorlova, S. R. Sunyaev, M. R. Spitz and C. I. Amos (2008). "Shifting paradigm of association studies: value of rare single-nucleotide polymorphisms." Am J Hum Genet 82(1): 100-12.
  • Edwards, A. O., R. Ritter, 3rd, K. J. Abel, A. Manning, C. Panhuysen and L. A. Farrer (2005). "Complement factor H polymorphism and age-related macular degeneration." Science 308(5720): 421-4.
  • Duan, Q., E. Y. Liu, P. L. Auer, G. Zhang, E. M. Lange, G. Jun, C. Bizon, S. Jiao, S. Buyske, N. Franceschini, C. S. Carlson, L. Hsu, A. P. Reiner, U. Peters, J. Haessler, K. Curtis, C. L. Wassel, J. G. Robinson, L. W. Martin, C. A. Haiman, et al. (2013). "Imputation of coding variants in African Americans: better performance using data from the exome sequencing project." Bioinformatics 29(21): 2744-9.
  • Du, M., P. L. Auer, S. Jiao, J. Haessler, D. Altshuler, E. Boerwinkle, C. S. Carlson, C. L. Carty, Y. D. Chen, K. Curtis, N. Franceschini, L. Hsu, R. Jackson, L. A. Lange, G. Lettre, K. L. Monda, D. A. Nickerson, A. P. Reiner, S. S. Rich, S. A. Rosse, et al. "Whole-exome imputation of sequence variants identified two novel alleles associated with adult body height in African Americans." Hum Mol Genet.
  • Delaneau, O., J. Marchini and J. F. Zagury (2012). "A linear complexity phasing method for thousands of genomes." Nat Methods 9(2): 179-81.
  • Deelen, P., A. Menelaou, E. M. van Leeuwen, A. Kanterakis, F. van Dijk, C. Medina- Gomez, L. C. Francioli, J. J. Hottenga, L. C. Karssen, K. Estrada, E. Kreiner- Moller, F. Rivadeneira, J. van Setten, J. Gutierrez-Achury, H. J. Westra, L. Franke, D. van Enckevort, M. Dijkstra, H. Byelas, C. M. van Duijn, et al. (2014). "Improved imputation quality of low-frequency and rare variants in European samples using the 'Genome of The Netherlands'." Eur J Hum Genet.
  • Cruchaga, C., C. M. Karch, S. C. Jin, B. A. Benitez, Y. Cai, R. Guerreiro, O. Harari, J. Norton, J. Budde, S. Bertelsen, A. T. Jeng, B. Cooper, T. Skorupa, D. Carrell, D. Levitch, S. Hsu, J. Choi, M. Ryten, J. Hardy, D. Trabzuni, et al. (2014). "Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease." Nature 505(7484): 550-4.
  • Cooke Bailey, J. N., N. D. Palmer, M. C. Ng, J. A. Bonomo, P. J. Hicks, J. M. Hester, C. D. Langefeld, B. I. Freedman and D. W. Bowden (2014). "Analysis of coding variants identified from exome sequencing resources for association with diabetic and non-diabetic nephropathy in African Americans." Hum Genet.
  • Cho, Y. S., M. J. Go, Y. J. Kim, J. Y. Heo, J. H. Oh, H. J. Ban, D. Yoon, M. H. Lee, D. J. Kim, M. Park, S. H. Cha, J. W. Kim, B. G. Han, H. Min, Y. Ahn, M. S. Park, H. R. Han, H. Y. Jang, E. Y. Cho, J. E. Lee, et al. (2009). "A largescale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits." Nat Genet 41(5): 527-34.
  • Chambers, J. C., W. Zhang, J. Sehmi, X. Li, M. N. Wass, P. Van der Harst, H. Holm, S. Sanna, M. Kavousi, S. E. Baumeister, L. J. Coin, G. Deng, C. Gieger, N. L. Heard-Costa, J. J. Hottenga, B. Kuhnel, V. Kumar, V. Lagou, L. Liang, J. Luan, et al. (2011). "Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma." Nat Genet 43(11): 1131-8.
  • Bush, W. S. and J. H. Moore (2012). "Chapter 11: Genome-wide association studies." PLoS Comput Biol 8(12): e1002822.
  • Browning, S. R. and B. L. Browning "Haplotype phasing: existing methods and new developments." Nat Rev Genet 12(10): 703-14.
  • Bodmer, W. and C. Bonilla (2008). "Common and rare variants in multifactorial susceptibility to common diseases." Nat Genet 40(6): 695-701.
  • Blanc, V., K. J. Sessa, S. Kennedy, J. Luo and N. O. Davidson (2010). "Apobec-1 complementation factor modulates liver regeneration by post-transcriptional regulation of interleukin-6 mRNA stability." J Biol Chem 285(25): 19184- 92.
  • Bathum, L., H. C. Petersen, J. U. Rosholm, P. Hyltoft Petersen, J. Vaupel and K. Christensen (2001). "Evidence for a substantial genetic influence on biochemical liver function tests: results from a population-based Danish twin study." Clin Chem 47(1): 81-7.
  • Bansal, V., O. Libiger, A. Torkamani and N. J. Schork (2010). "Statistical analysis strategies for association studies involving rare variants." Nat Rev Genet 11(11): 773-85.
  • Auer, P. L., J. M. Johnsen, A. D. Johnson, B. A. Logsdon, L. A. Lange, M. A. Nalls, G. Zhang, N. Franceschini, K. Fox, E. M. Lange, S. S. Rich, C. J. O'Donnell, R. D. Jackson, R. B. Wallace, Z. Chen, T. A. Graubert, J. G. Wilson, H.
  • Auer, P. L., A. Teumer, U. Schick, A. O'Shaughnessy, K. S. Lo, N. Chami, C. Carlson, S. de Denus, M. P. Dube, J. Haessler, R. D. Jackson, C. Kooperberg, L. P. Perreault, M. Nauck, U. Peters, J. D. Rioux, F. Schmidt, V. Turcot, U. Volker, H. Volzke, et al. "Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits." Nat Genet 46(6): 629-34.