[1] Asking for more. Nat Genet, 2012, 44(7): 733. <\p>

[2] Raychaudhuri S. Mapping rare and common causal alleles for complex human diseases. Cell, 2011, 147(1): 57–69. <\p>

[3] Marchini J, Howie B. Genotype imputation for genome- wide association studies. Nat Rev Genet, 2010, 11(7): 499–511. <\p>

[4] Howie BN, Donnelly P, Marchini J. A flexible and accurate genotype imputation method for the next generation of genome-wide association studies. PLoS Genet, 2009, 5(6): e1000529. <\p>

[5] Raychaudhuri S, Sandor C, Stahl EA, Freudenberg J, Lee HS, Jia X, Alfredsson L, Padyukov L, Klareskog L, Worthington J, Siminovitch KA, Bae SC, Plenge RM, Gregersen PK, De Bakker PI. Five amino acids in three hla proteins explain most of the association between MHC and seropositive rheumatoid arthritis. Nat Genet, 2012, 44(3): 291–296. <\p>

[6] Peters U, North KE, Sethupathy P, Buyske S, Haessler J, Jiao S, Fesinmeyer MD, Jackson RD, Kuller LH, Rajkovic A, Lim U, Cheng I, Schumacher F, Wilkens L, Li R, Monda K, Ehret G, Nguyen KD, Cooper R, Lewis CE, Leppert M, Irvin MR, Gu CC, Houston D, Buzkova P, Ritchie M, Matise TC, Le Marchand L, Hindorff L A, Crawford DC, Haiman CA, Kooperberg C. A systematic mapping approach of 16q12. 2/FTO and BMI in more than 20, 000 African Americans narrows in on the underlying functional variation: results from the Population Architecture using Genomics and Epidemiology (PAGE) study. PLoS Genet, 2013, 9(1): e1003171. <\p>

[7] Liu JZ, Almarri MA, Gaffney DJ, Mells GF, Jostins L, Cordell HJ, Ducker SJ, Day DB, Heneghan MA, Neuberger JM, Donaldson PT, Bathgate AJ, Burroughs A, Davies MH, Jones DE, Alexander GJ, Barrett JC, Sandford RN, Anderson CA. Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis. Nat Genet, 2012, 44(10): 1137–1141. <\p>

[8] Lange CM, Bibert S, Dufour JF, Cellerai C, Cerny A, Heim MH, Kaiser L, Malinverni R, Mullhaupt B, Negro F, Semela D, Moradpour D, Kutalik Z, Bochud PY. Comparative genetic analyses point to HCP5 as susceptibility locus for HCV-associated hepatocellular carcinoma. J Hepatol, 2013, 59(3): 504–509. <\p>

[9] Howie B, Fuchsberger C, Stephens M, Marchini J, Abecasis GR. Fast and accurate genotype imputation in genome-wide association studies through pre-phasing. Nat Genet, 2012, 44(8): 955–999. <\p>

[10] Ji WZ, Foo JN, O'roak BJ, Zhao HY, Larson MG, Simon DB, Newton-Cheh C, State MW, Levy D, Lifton RP. Rare independent mutations in renal salt handling genes contribute to blood pressure variation. Nat Genet, 2008, 40(5): 592–599. <\p>

[11] Park H, Kim J II, Ju YS, Gokcumen O, Mills RE, Kim S, Lee S, Suh D, Hong D, Kang HP, Yoo YJ, Shin JY, Kim HJ, Yavartanoo M, Chang YW, Ha JS, Chong W, Hwang GR, Darvishi K, Kim H, Yang SJ, Yang KS, Hurles ME, Scherer SW, Carter NP, Tyler-Smith C, Lee C, Seo JS. Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing. Nat Genet, 2010, 42(5): 400– 405. <\p>

[12] Yu TW, Mochida GH, Tischfield DJ, Sgaier SK, Flores-Sarnat L, Sergi CM, Topcu M, Mcdonald MT, Barry BJ, Felie JM, Sunu C, Dobyns WB, Folkerth RD, Barkovich AJ, Walsh CA. Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. Nat Genet, 2010, 42(11): 1015–1020. <\p>

[13] Xiang K, Ouzhuluobu, Peng Y, Yang ZH, Zhang XM, Cui CY, Zhang H, Li M, Zhang YF, Bianba, Gonggalanzi, Basang, Ciwangsangbu, Wu TY, Chen H, Shi H, Qi XB, Su B. Identification of a Tibetan-specific mutation in the hypoxic gene EGLN1 and its contribution to high-altitude adaptation. Mol Biol Evol, 2013, 30(8): 1889–1898. <\p>

[14] Galarneau G, Palmer CD, Sankaran VG, Orkin SH, Hirschhorn JN, Lettre G. Fine-mapping at three loci known to affect fetal hemoglobin levels explains addi¬tional genetic variation. Nat Genet, 2010, 42(12): 1049– 1051. <\p>

[15] Freedman ML, Monteiro AN, Gayther SA, Coetzee GA, Risch A, Plass C, Casey G, De Biasi M, Carlson C, Duggan D, James M, Liu P, Tichelaar JW, Vikis HG, You M, Mills IG. Principles for the post-GWAS functional characterization of cancer risk loci. Nat Genet, 2011, 43(6): 513–518. <\p>

[16] Levine M, Tjian R. Transcription regulation and animal diversity. Nature, 2003, 424(6945): 147–151. <\p>

[17] Idaghdour Y, Czika W, Shianna KV, Lee SH, Visscher PM, Martin HC, Miclaus K, Jadallah SJ, Goldstein DB, Wolfinger RD, Gibson G. Geographical genomics of human leukocyte gene expression variation in southern Morocco. Nat Genet, 2010, 42(1): 62–67. <\p>

[18] Kouzarides T. Chromatin modifications and their function. Cell, 2007, 128(4): 693–705. <\p>

[19] Raval A, Tanner SM, Byrd JC, Angerman EB, Perko JD, Chen SS, Hackanson B, Grever MR, Lucas DM, Matkovic JJ, Lin TS, Kipps TJ, Murray F, Weisenburger D, Sanger W, Lynch J, Watson P, Jansen M, Yoshinaga Y, Rosenquist R, De Jong PJ, Coggill P, Beck S, Lynch H, De La Chapelle A, Plass C. Downregulation of death-associated protein kinase 1 (DAPK1) in chronic lymphocytic leukemia. Cell, 2007, 129(5): 879–890. <\p>

[20] Gupta RA, Shah N, Wang KC, Kim J, Horlings HM, Wong DJ, Tsai MC, Hung T, Argani P, Rinn JL, Wang YL, Brzoska P, Kong B, Li R, West RB, Van De Vijver MJ, Sukumar S, Chang HY. Long non-coding RNA HOTAIR reprograms chromatin state to promote cancer metastasis. Nature, 2010, 464(7291): 1071–1076. <\p>

[21] Visel A, Blow MJ, Li ZR, Zhang T, Akiyama JA, Holt A, Plajzer-Frick I, Shoukry M, Wright C, Chen F, Afzal V, Ren B, Rubin EM, Pennacchio LA. ChIP-seq accurately predicts tissue-specific activity of enhancers. Nature, 2009, 457(7231): 854–858. <\p>

[22] Pomerantz MM, Ahmadiyeh N, Jia L, Herman P, Verzi MP, Doddapaneni H, Beckwith CA, Chan JA, Hills A, Davis M, Yao K, Kehoe SM, Lenz HJ, Haiman CA, Yan C, Henderson BE, Frenkel B, Barretina J, Bass A, Tabernero J, Baselga J, Regan MM, Manak JR, Shivdasani R, Coetzee GA, Freedman ML. The 8q24 cancer risk variant rs6983267 shows long-range interaction with MYC in colorectal cancer. Nat Genet, 2009, 41(8): 882–884. <\p>

[23] Zhao ZH, Tavoosidana G, Sjölinder M, Göndör A, Mariano P, Wang S, Kanduri C, Lezcano M, Sandhu K S, Singh U, Pant V, Tiwari V, Kurukuti S, Ohlsson R. Circular chro-mosome conformation capture (4C) uncovers extensive networks of epigenetically regulated intra- and interchro-mosomal interactions. Nat Genet, 2006, 38(11): 1341– 1347. <\p>

[24] Damerval C, Maurice A, Josse JM, de Vienne D. Quan¬titative trait loci underlying gene product variation: a novel perspective for analyzing regulation of genome expression. Genetics, 1994, 137(1): 289–301. <\p>

[25] Rockman MV, Kruglyak L. Genetics of global gene expression. Nat Rev Genet, 2006, 7(11): 862–872. <\p>

[26] Morley M, Molony CM, Weber TM, Devlin JL, Ewens KG, Spielman RS, Cheung VG. Genetic analysis of genome- wide variation in human gene expression. Nature, 2004, 430(7001): 743–747. <\p>

[27] Schadt EE, Molony C, Chudin E, Hao K, Yang X, Lum PY, Kasarskis A, Zhang B, Wang S, Suver C, Zhu J, Millstein J, Sieberts S, Lamb J, Guhathakurta D, Derry J, Storey JD, Avila-Campillo I, Kruger MJ, Johnson JM, Rohl CA, Van Nas A, Mehrabian M, Drake TA, Lusis AJ, Smith RC, Guengerich FP, Strom SC, Schuetz E, Rushmore TH, Ulrich R. Mapping the genetic architecture of gene expression in human liver. PLoS Biol, 2008, 6(5): e107. <\p>

[28] Musunuru K, Strong A, Frank-Kamenetsky M, Lee NE, Ahfeldt T, Sachs KV, Li X, Li H, Kuperwasser N, Ruda VM, Pirruccello JP, Muchmore B, Prokunina-Olsson L, Hall JL, Schadt EE, Morales CR, Lund-Katz S, Phillips MC, Wong J, Cantley W, Racie T, Ejebe KG, Orho- Melander M, Melander O, Koteliansky V, Fitzgerald K, Krauss RM, Cowan CA, Kathiresan S, Rader DJ. From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus. Nature, 2010, 466(7307): 714–719. <\p>

[29] Manku H, Langefeld CD, Guerra SG, Malik TH, Alarcon-Riquelme M, Anaya JM, Bae SC, Boackle SA, Brown EE, Criswell LA, Freedman BI, Gaffney PM, Gregersen PA, Guthridge JM, Han SH, Harley JB, Jacob CO, James JA, Kamen DL, Kaufman KM, Kelly JA, Martin J, Merrill JT, Moser KL, Niewold TB, Park SY, Pons-Estel BA, Sawalha AH, Scofield RH, Shen N, Stevens AM, Sun C, Gilkeson GS, Edberg JC, Kimberly RP, Nath SK, Tsao BP, Vyse TJ. Trans-ancestral studies fine map the SLE-susceptibility locus TNFSF4. PLoS Genet, 2013, 9(7): e1003554. <\p>

[30] Kornum BR, Kawashima M, Faraco J, Lin L, Rico TJ, Hesselson S, Axtell RC, Kuipers H, Weiner K, Hamacher A, Kassack MU, Han F, Knudsen S, Li J, Dong X, Winkelmann J, Plazzi G, Nevsimalova S, Hong SC, Honda Y, Honda M, Hogl B, Ton TG, Montplaisir J, Bourgin P, Kemlink D, Huang YS, Warby S, Einen M, Eshragh JL, Miyagawa T, Desautels A, Ruppert E, Hesla PE, Poli F, Pizza F, Frauscher B, Jeong JH, Lee SP, Strohl KP, Longstreth WT, Jr., Kvale M, Dobrovolna M, Ohayon MM, Nepom GT, Wichmann HE, Rouleau GA, Gieger C, Levinson DF, Gejman PV, Meitinger T, Peppard P, Young T, Jennum P, Steinman L, Tokunaga K, Kwok PY, Risch N, Hallmayer J, Mignot E. Common variants in P2RY11 are associated with narcolepsy. Nat Genet, 2011, 43(1): 66– 71. <\p>

[31] Adrianto I, Wen F, Templeton A, Wiley G, King JB, Lessard CJ, Bates JS, Hu YQ, Kelly JA, Kaufman KM, Guthridge JM, Alarcón-Riquelme ME, Anaya JM, Bae SC, Bang SY, Boackle SA, Brown EE, Petri MA, Gallant C, Ramsey-Goldman R, Reveille JD, Vila LM, Criswell LA, Edberg JC, Freedman BI, Gregersen PK, Gilkeson GS, Jacob CO, James JA, Kamen DL, Kimberly RP, Martin J, Merrill JT, Niewold TB, Park SY, Pons-Estel BA, Scofield RH, Stevens AM, Tsao BP, Vyse TJ, Langefeld CD, Harley JB, Moser KL, Webb CF, Humphrey MB, Montgomery CG, Gaffney PM. Association of a functional variant downstream of TNFAIP3 with systemic lupus erythe-matosus. Nat Genet, 2011, 43(3): 253–258. <\p>

[32] Wu Y, Waite LL, Jackson AU, Sheu WH.  Trans-ethnic fine-mapping of lipid loci identifies population-specific signals and allelic heterogeneity that increases the trait variance explained. PLoS Genet, 2013, 9(3): e1003379. <\p>

[33] Bodmer W, Bonilla C. Common and rare variants in multifactorial susceptibility to common diseases. Nat Genet, 2008, 40(6): 695–701. <\p>

[34] Dickson SP, Wang K, Krantz I, Hakonarson H, Goldstein DB. Rare variants create synthetic genome-wide associa-tions. PLoS Bio, 2010, 8(1): e1000294. <\p>

[35] Azzopardi D, Dallosso AR, Eliason K, Hendrickson BC, Jones N, Rawstorne E, Colley J, Moskvina V, Frye C, Sampson JR, Wenstrup R, Scholl T, Cheadle JP. Multiple rare nonsynonymous variants in the adenomatous polyposis coli gene predispose to colorectal adenomas. Cancer Res, 2008, 68(2): 358–363. <\p>

[36] Bansal V, Libiger O, Torkamani A, Schork NJ. Statistical analysis strategies for association studies involving rare variants. Nat Rev Genet, 2010, 11(11): 773–785. <\p>

[37] Momozawa Y, Mni M, Nakamura K, Coppieters W, Almer S, Amininejad L, Cleynen I, Colombel JF, De Rijk P, Dewit O, Finkel Y, Gassull MA, Goossens D, Laukens D, Lémann M, Libioulle C, O'morain C, Reenaers C, Rutgeerts P, Tysk C, Zelenika D, Lathrop M, Del-Favero J, Hugot JP, De Vos M, Franchimont D, Vermeire S, Louis E, Georges M. Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease. Nat Genet, 2011, 43(1): 43–47. <\p>

[38] Wang K, Dickson SP, Stolle CA, Krantz ID, Goldstein DB, Hakonarson H. Interpretation of association signals and identification of causal variants from genome-wide asso¬cia-tion studies. Am J Hum Genet, 2010, 86(5): 730–742. <\p>

[39] Raychaudhuri S, Iartchouk O, Chin K, Tan PL, Tai AK, Ripke S, Gowrisankar S, Vemuri S, Montgomery K, Yu Y, Reynolds R, Zack DJ, Campochiaro B, Campochiaro P, Katsanis N, Daly MJ, Seddon JM. A rare penetrant mutation in CFH confers high risk of age-related macular degeneration. Nat Genet, 2011, 43(12): 1232–1236. <\p>

[40] Ewing CM, Ray AM, Lange EM, Zuhlke KA, Robbins CM, Tembe WD, Wiley KE, Isaacs SD, Johng D, Wang Y, Bizon C, Yan G, Gielzak M, Partin AW, Shanmugam V, Izatt T, Sinari S, Craig DW, Zheng SL, Walsh PC, Montie JE, Xu J, Carpten JD, Isaacs WB, Cooney KA. Germline mutations in HOXB13 and prostate-cancer risk. N Engl J Med, 2012, 366(2): 141–149. <\p>

[41] Cohen JC, Kiss RS, Pertsemlidis A, Marcel YL, Mcpherson R, Hobbs HH. Multiple rare alleles contribute to low plasma levels of HDL cholesterol. Science, 2004, 305(5685): 869–872. <\p>

[42] Bernstein BE, Birney E, Dunham I, Green ED, Gunter C, Snyder M. An integrated encyclopedia of DNA elements in the human genome. Nature, 2012, 489(7414): 57–74. <\p>

[43] Lupski JR, Belmont JW, Boerwinkle E, Gibbs RA. Clan genomics and the complex architecture of human disease. Cell, 2011, 147(1): 32–43. <\p>

[44] Loots GG, Locksley RM, Blankespoor CM, Wang ZE, Miller W, Rubin EM, Frazer KA. Identification of a coordinate regulator of interleukins 4, 13, and 5 by cross- species sequence comparisons. Science, 2000, 288(5463): 136–140. <\p>

[45] Gerstein MB, Kundaje A, Hariharan M, Landt SG, Yan KK, Cheng C, Mu XJ, Khurana E, Rozowsky J, Alexander R, Min R, Alves P, Abyzov A, Addleman N, Bhardwaj N, Boyle AP, Cayting P, Charos A, Chen DZ, Cheng Y, Clarke D, Eastman C, Euskirchen G, Frietze S, Fu Y, Gertz J, Grubert F, Harmanci A, Jain P, Kasowski M, Lacroute P, Leng J, Lian J, Monahan H, O'geen H, Ouyang Z, Partridge EC, Patacsil D, Pauli F, Raha D, Ramirez L, Reddy TE, Reed B, Shi M, Slifer T, Wang J, Wu L, Yang X, Yip KY, Zilberman-Schapira G, Batzoglou S, Sidow A, Farnham PJ, Myers RM, Weissman SM, Snyder M. Architecture of the human regulatory network derived from ENCODE data. Nature, 2012, 489(7414): 91–100. <\p>

[46] Sanyal A, Lajoie BR, Jain G, Dekker J. The long-range interaction landscape of gene promoters. Nature, 2012, 489(7414): 109–113. <\p>

[47] Kimchi-Sarfaty C, Oh JM, Kim IW, Sauna ZE, Calcagno AM, Ambudkar SV, Gottesman MM. A "silent" poly¬morphism in the MDR1 gene changes substrate specificity. Science, 2007, 315(5811): 525–528.<\p>