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한국인 햅맵과제

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과제를 통해 구축된 한국인 HapMap 데이터베이스와 검색시스템은 국내 연구자들이 질병연관 연구를 수행할 때 데이터마이닝 시스템으로 활용되어 암, 당뇨병 등과 같은 복합질병의 유전자를 찾는데 중요한 정보를 제공하게 될 것이며, 궁극적으로는 개인별 맞춤약물개발과 같은 신약개발의 중요한 자료로 이용될 수 있을 것임  주요 제공 기능- Haploview: Haplotype reconstruction, LD　Block partition, Tagging SNP prediction, Disease Association- PHASE: Recombination rate calculation- TCS: Haplotype Maximum Parsimony Tree construction     엔코드 영역 bSNP에 등록된 모든 SNP와 추가적으로 resequencing을 통해 새로 발굴한 모든 SNP에 대해 보다 조밀한 간격으로 genotyping 실험을 진행하였다. 이 연구에서는 10개의 Hapmap ENCODE 중에서 ENm010 영역을 분석에 사용하였다. <table style="BORDER-RIGHT: medium none; BORDER-TOP: medium none; BORDER-LEFT: medium none; BORDER-BOTTOM: medium none; BORDER-COLLAPSE: collapse" cellspacing="0" cellpadding="0" border="1"> <caption align="bottom"> 표 1 International HapMap ENCODE 영역 </caption> <tbody> <tr> <td style="BORDER-RIGHT: #000000 0.4pt solid; PADDING-RIGHT: 1.4pt; BORDER-TOP: #000000 0.4pt solid; PADDING-LEFT: 1.4pt; PADDING-BOTTOM: 1.4pt; BORDER-LEFT: #000000 0.4pt solid; PADDING-TOP: 1.4pt; BORDER-BOTTOM: #000000 0.4pt solid" valign="middle" width="70" bgcolor="#ccffcc" height="38"> Region Name </td> <td style="BORDER-RIGHT: #000000 0.4pt solid; PADDING-RIGHT: 1.4pt; BORDER-TOP: #000000 0.4pt solid; PADDING-LEFT: 1.4pt; PADDING-BOTTOM: 1.4pt; BORDER-LEFT: #000000 0.4pt solid; PADDING-TOP: 1.4pt; BORDER-BOTTOM: #000000 0.4pt solid" valign="middle" width="95" bgcolor="#ccffcc" height="38"> Chromosome band </td> <td style="BORDER-RIGHT: #000000 0.4pt solid; PADDING-RIGHT: 1.4pt; BORDER-TOP: #000000 0.4pt solid; PADDING-LEFT: 1.4pt; PADDING-BOTTOM: 1.4pt; BORDER-LEFT: #000000 0.4pt solid; PADDING-TOP: 1.4pt; BORDER-BOTTOM: #000000 0.4pt solid" valign="middle" width="181" bgcolor="#ccffcc" height="38"> Genomic interval </td> <td style="BORDER-RIGHT: #000000 0.4pt solid; PADDING-RIGHT: 1.4pt; BORDER-TOP: #000000 0.4pt solid; PADDING-LEFT: 1.4pt; PADDING-BOTTOM: 1.4pt; BORDER-LEFT: #000000 0.4pt solid; PADDING-TOP: 1.4pt; BORDER-BOTTOM: #000000 0.4pt solid" valign="middle" width="186" bgcolor="#ccffcc" height="38"> Genotyping group </td> </tr> <tr> <td style="BORDER-RIGHT: #000000 0.4pt solid; PADDING-RIGHT: 1.4pt; BORDER-TOP: #000000 0.4pt solid; PADDING-LEFT: 1.4pt; PADDING-BOTTOM: 1.4pt; BORDER-LEFT: #000000 0.4pt solid; PADDING-TOP: 1.4pt; BORDER-BOTTOM: #000000 0.4pt solid" valign="middle" width="70" bgcolor="#ffffc4" height="17"> ENr112 </td> <td style="BORDER-RIGHT: #000000 0.4pt solid; PADDING-RIGHT: 1.4pt; BORDER-TOP: #000000 0.4pt solid; PADDING-LEFT: 1.4pt; PADDING-BOTTOM: 1.4pt; BORDER-LEFT: #000000 0.4pt solid; PADDING-TOP: 1.4pt; BORDER-BOTTOM: #000000 0.4pt solid" valign="middle" width="95" height="17"> 2p16.3 </td> <td style="BORDER-RIGHT: #000000 0.4pt solid; PADDING-RIGHT: 1.4pt; BORDER-TOP: #000000 0.4pt solid; PADDING-LEFT: 1.4pt; PADDING-BOTTOM: 1.4pt; BORDER-LEFT: #000000 0.4pt solid; PADDING-TOP: 1.4pt; BORDER-BOTTOM: #000000 0.4pt solid" valign="middle" width="181" height="17"> Chr2:51633239..52133238 </td> <td style="BORDER-RIGHT: #000000 0.4pt solid; PADDING-RIGHT: 1.4pt; BORDER-TOP: #000000 0.4pt solid; PADDING-LEFT: 1.4pt; PADDING-BOTTOM: 1.4pt; BORDER-LEFT: #000000 0.4pt solid; PADDING-TOP: 1.4pt; BORDER-BOTTOM: #000000 0.4pt solid" valign="middle" width="186" height="17"> McGill-GQIC, Perlegen </td> </tr> <tr> <td style="BORDER-RIGHT: #000000 0.4pt solid; PADDING-RIGHT: 1.4pt; BORDER-TOP: #000000 0.4pt solid; PADDING-LEFT: 1.4pt; PADDING-BOTTOM: 1.4pt; BORDER-LEFT: #000000 0.4pt solid; PADDING-TOP: 1.4pt; BORDER-BOTTOM: #000000 0.4pt solid" valign="middle" width="70" bgcolor="#ffffc4" height="23"> ENr131  </td> <td style="BORDER-RIGHT: #000000 0.4pt solid; PADDING-RIGHT: 1.4pt; BORDER-TOP: #000000 0.4pt solid; PADDING-LEFT: 1.4pt; PADDING-BOTTOM: 1.4pt; BORDER-LEFT: #000000 0.4pt solid; PADDING-TOP: 1.4pt; BORDER-BOTTOM: #000000 0.4pt solid" valign="middle" width="95" height="23"> 2q37.1  </td> <td style="BORDER-RIGHT: #000000 0.4pt solid; PADDING-RIGHT: 1.4pt; BORDER-TOP: #000000 0.4pt solid; PADDING-LEFT: 1.4pt; PADDING-BOTTOM: 1.4pt; BORDER-LEFT: #000000 0.4pt solid; PADDING-TOP: 1.4pt; BORDER-BOTTOM: #000000 0.4pt solid" valign="middle" width="181" height="23"> Chr2:234778639..235278638  </td> <td style="BORDER-RIGHT: #000000 0.4pt solid; PADDING-RIGHT: 1.4pt; BORDER-TOP: #000000 0.4pt solid; PADDING-LEFT: 1.4pt; PADDING-BOTTOM: 1.4pt; BORDER-LEFT: #000000 0.4pt solid; PADDING-TOP: 1.4pt; BORDER-BOTTOM: #000000 0.4pt solid" valign="middle" width="186" height="23"> McGill-GQIC, Perlegen </td> </tr> <tr> <td style="BORDER-RIGHT: #000000 0.4pt solid; PADDING-RIGHT: 1.4pt; BORDER-TOP: #000000 0.4pt solid; PADDING-LEFT: 1.4pt; PADDING-BOTTOM: 1.4pt; BORDER-LEFT: #000000 0.4pt solid; PADDING-TOP: 1.4pt; BORDER-BOTTOM: #000000 0.4pt solid" valign="middle" width="70" bgcolor="#ffffc4" height="23"> ENr113  </td> <td style="BORDER-RIGHT: #000000 0.4pt solid; PADDING-RIGHT: 1.4pt; BORDER-TOP: #000000 0.4pt solid; PADDING-LEFT: 1.4pt; PADDING-BOTTOM: 1.4pt; BORDER-LEFT: #000000 0.4pt solid; PADDING-TOP: 1.4pt; BORDER-BOTTOM: #000000 0.4pt solid" valign="middle" width="95" height="23"> 4q26  </td> <td style="BORDER-RIGHT: #000000 0.4pt solid; PADDING-RIGHT: 1.4pt; BORDER-TOP: #000000 0.4pt solid; PADDING-LEFT: 1.4pt; PADDING-BOTTOM: 1.4pt; BORDER-LEFT: #000000 0.4pt solid; PADDING-TOP: 1.4pt; BORDER-BOTTOM: #000000 0.4pt solid" valign="middle" width="181" height="23"> Chr4:118705475..119205474  </td> <td style="BORDER-RIGHT: #000000 0.4pt solid; PADDING-RIGHT: 1.4pt; BORDER-TOP: #000000 0.4pt solid; PADDING-LEFT: 1.4pt; PADDING-BOTTOM: 1.4pt; BORDER-LEFT: #000000 0.4pt solid; PADDING-TOP: 1.4pt; BORDER-BOTTOM: #000000 0.4pt solid" valign="middle" width="186" height="23"> Broad, Perlegen </td> </tr> <tr> <td style="BORDER-RIGHT: #000000 0.4pt solid; PADDING-RIGHT: 1.4pt; BORDER-TOP: #000000 0.4pt solid; PADDING-LEFT: 1.4pt; PADDING-BOTTOM: 1.4pt; BORDER-LEFT: #000000 0.4pt solid; PADDING-TOP: 1.4pt; BORDER-BOTTOM: #000000 0.4pt solid" valign="middle" width="70" bgcolor="#ffffc4" height="23"> ENm010  </td> <td style="BORDER-RIGHT: #000000 0.4pt solid; PADDING-RIGHT: 1.4pt; BORDER-TOP: #000000 0.4pt solid; PADDING-LEFT: 1.4pt; PADDING-BOTTOM: 1.4pt; BORDER-LEFT: #000000 0.4pt solid; PADDING-TOP: 1.4pt; BORDER-BOTTOM: #000000 0.4pt solid" valign="middle" width="95" height="23"> 7p15.2  </td> <td style="BORDER-RIGHT: #000000 0.4pt solid; PADDING-RIGHT: 1.4pt; BORDER-TOP: #000000 0.4pt solid; PADDING-LEFT: 1.4pt; PADDING-BOTTOM: 1.4pt; BORDER-LEFT: #000000 0.4pt solid; PADDING-TOP: 1.4pt; BORDER-BOTTOM: #000000 0.4pt solid" valign="middle" width="181" height="23"> Chr7:26699793..27199792  </td> <td style="BORDER-RIGHT: #000000 0.4pt solid; PADDING-RIGHT: 1.4pt; BORDER-TOP: #000000 0.4pt solid; PADDING-LEFT: 1.4pt; PADDING-BOTTOM: 1.4pt; BORDER-LEFT: #000000 0.4pt solid; PADDING-TOP: 1.4pt; BORDER-BOTTOM: #000000 0.4pt solid" valign="middle" width="186" height="23"> UCSF-WU, Perlegen </td> </tr> <tr> <td style="BORDER-RIGHT: #000000 0.4pt solid; PADDING-RIGHT: 1.4pt; BORDER-TOP: #000000 0.4pt solid; PADDING-LEFT: 1.4pt; PADDING-BOTTOM: 1.4pt; BORDER-LEFT: #000000 0.4pt solid; PADDING-TOP: 1.4pt; BORDER-BOTTOM: #000000 0.4pt solid" valign="middle" width="70" bgcolor="#ffffc4" height="23"> ENm013  </td> <td style="BORDER-RIGHT: #000000 0.4pt solid; PADDING-RIGHT: 1.4pt; BORDER-TOP: #000000 0.4pt solid; PADDING-LEFT: 1.4pt; PADDING-BOTTOM: 1.4pt; BORDER-LEFT: #000000 0.4pt solid; PADDING-TOP: 1.4pt; BORDER-BOTTOM: #000000 0.4pt solid" valign="middle" width="95" height="23"> 7q21.13  </td> <td style="BORDER-RIGHT: #000000 0.4pt solid; PADDING-RIGHT: 1.4pt; BORDER-TOP: #000000 0.4pt solid; PADDING-LEFT: 1.4pt; PADDING-BOTTOM: 1.4pt; BORDER-LEFT: #000000 0.4pt solid; PADDING-TOP: 1.4pt; BORDER-BOTTOM: #000000 0.4pt solid" valign="middle" width="181" height="23"> Chr7:89395718..89895717  </td> <td style="BORDER-RIGHT: #000000 0.4pt solid; PADDING-RIGHT: 1.4pt; BORDER-TOP: #000000 0.4pt solid; PADDING-LEFT: 1.4pt; PADDING-BOTTOM: 1.4pt; BORDER-LEFT: #000000 0.4pt solid; PADDING-TOP: 1.4pt; BORDER-BOTTOM: #000000 0.4pt solid" valign="middle" width="186" height="23"> Broad, Perlegen </td> </tr> <tr> <td style="BORDER-RIGHT: #000000 0.4pt solid; PADDING-RIGHT: 1.4pt; BORDER-TOP: #000000 0.4pt solid; PADDING-LEFT: 1.4pt; PADDING-BOTTOM: 1.4pt; BORDER-LEFT: #000000 0.4pt solid; PADDING-TOP: 1.4pt; BORDER-BOTTOM: #000000 0.4pt solid" valign="middle" width="70" bgcolor="#ffffc4" height="23"> ENm014  </td> <td style="BORDER-RIGHT: #000000 0.4pt solid; PADDING-RIGHT: 1.4pt; BORDER-TOP: #000000 0.4pt solid; PADDING-LEFT: 1.4pt; PADDING-BOTTOM: 1.4pt; BORDER-LEFT: #000000 0.4pt solid; PADDING-TOP: 1.4pt; BORDER-BOTTOM: #000000 0.4pt solid" valign="middle" width="95" height="23"> 7q31.33  </td> <td style="BORDER-RIGHT: #000000 0.4pt solid; PADDING-RIGHT: 1.4pt; BORDER-TOP: #000000 0.4pt solid; PADDING-LEFT: 1.4pt; PADDING-BOTTOM: 1.4pt; BORDER-LEFT: #000000 0.4pt solid; PADDING-TOP: 1.4pt; BORDER-BOTTOM: #000000 0.4pt solid" valign="middle" width="181" height="23"> Chr7:126135436..126632577  </td> <td style="BORDER-RIGHT: #000000 0.4pt solid; PADDING-RIGHT: 1.4pt; BORDER-TOP: #000000 0.4pt solid; PADDING-LEFT: 1.4pt; PADDING-BOTTOM: 1.4pt; BORDER-LEFT: #000000 0.4pt solid; PADDING-TOP: 1.4pt; BORDER-BOTTOM: #000000 0.4pt solid" valign="middle" width="186" height="23"> Broad, Perlegen </td> </tr> <tr> <td style="BORDER-RIGHT: #000000 0.4pt solid; PADDING-RIGHT: 1.4pt; BORDER-TOP: #000000 0.4pt solid; PADDING-LEFT: 1.4pt; PADDING-BOTTOM: 1.4pt; BORDER-LEFT: #000000 0.4pt solid; PADDING-TOP: 1.4pt; BORDER-BOTTOM: #000000 0.4pt solid" valign="middle" width="70" bgcolor="#ffffc4" height="23"> ENr321 </td> <td style="BORDER-RIGHT: #000000 0.4pt solid; PADDING-RIGHT: 1.4pt; BORDER-TOP: #000000 0.4pt solid; PADDING-LEFT: 1.4pt; PADDING-BOTTOM: 1.4pt; BORDER-LEFT: #000000 0.4pt solid; PADDING-TOP: 1.4pt; BORDER-BOTTOM: #000000 0.4pt solid" valign="middle" width="95" height="23"> 8q24.11  </td> <td style="BORDER-RIGHT: #000000 0.4pt solid; PADDING-RIGHT: 1.4pt; BORDER-TOP: #000000 0.4pt solid; PADDING-LEFT: 1.4pt; PADDING-BOTTOM: 1.4pt; BORDER-LEFT: #000000 0.4pt solid; PADDING-TOP: 1.4pt; BORDER-BOTTOM: #000000 0.4pt solid" valign="middle" width="181" height="23"> Chr8:118769628..119269627  </td> <td style="BORDER-RIGHT: #000000 0.4pt solid; PADDING-RIGHT: 1.4pt; BORDER-TOP: #000000 0.4pt solid; PADDING-LEFT: 1.4pt; PADDING-BOTTOM: 1.4pt; BORDER-LEFT: #000000 0.4pt solid; PADDING-TOP: 1.4pt; BORDER-BOTTOM: #000000 0.4pt solid" valign="middle" width="186" height="23"> Illumina, Perlegen </td> </tr> <tr> <td style="BORDER-RIGHT: #000000 0.4pt solid; PADDING-RIGHT: 1.4pt; BORDER-TOP: #000000 0.4pt solid; PADDING-LEFT: 1.4pt; PADDING-BOTTOM: 1.4pt; BORDER-LEFT: #000000 0.4pt solid; PADDING-TOP: 1.4pt; BORDER-BOTTOM: #000000 0.4pt solid" valign="middle" width="70" bgcolor="#ffffc4" height="23"> ENr232  </td> <td style="BORDER-RIGHT: #000000 0.4pt solid; PADDING-RIGHT: 1.4pt; BORDER-TOP: #000000 0.4pt solid; PADDING-LEFT: 1.4pt; PADDING-BOTTOM: 1.4pt; BORDER-LEFT: #000000 0.4pt solid; PADDING-TOP: 1.4pt; BORDER-BOTTOM: #000000 0.4pt solid" valign="middle" width="95" height="23"> 9q34.11  </td> <td style="BORDER-RIGHT: #000000 0.4pt solid; PADDING-RIGHT: 1.4pt; BORDER-TOP: #000000 0.4pt solid; PADDING-LEFT: 1.4pt; PADDING-BOTTOM: 1.4pt; BORDER-LEFT: #000000 0.4pt solid; PADDING-TOP: 1.4pt; BORDER-BOTTOM: #000000 0.4pt solid" valign="middle" width="181" height="23"> Chr9:127061347..127561346  </td> <td style="BORDER-RIGHT: #000000 0.4pt solid; PADDING-RIGHT: 1.4pt; BORDER-TOP: #000000 0.4pt solid; PADDING-LEFT: 1.4pt; PADDING-BOTTOM: 1.4pt; BORDER-LEFT: #000000 0.4pt solid; PADDING-TOP: 1.4pt; BORDER-BOTTOM: #000000 0.4pt solid" valign="middle" width="186" height="23"> Illumina, Perlegen </td> </tr> <tr> <td style="BORDER-RIGHT: #000000 0.4pt solid; PADDING-RIGHT: 1.4pt; BORDER-TOP: #000000 0.4pt solid; PADDING-LEFT: 1.4pt; PADDING-BOTTOM: 1.4pt; BORDER-LEFT: #000000 0.4pt solid; PADDING-TOP: 1.4pt; BORDER-BOTTOM: #000000 0.4pt solid" valign="middle" width="70" bgcolor="#ffffc4" height="23"> ENr123  </td> <td style="BORDER-RIGHT: #000000 0.4pt solid; PADDING-RIGHT: 1.4pt; BORDER-TOP: #000000 0.4pt solid; PADDING-LEFT: 1.4pt; PADDING-BOTTOM: 1.4pt; BORDER-LEFT: #000000 0.4pt solid; PADDING-TOP: 1.4pt; BORDER-BOTTOM: #000000 0.4pt solid" valign="middle" width="95" height="23"> 12q12  </td> <td style="BORDER-RIGHT: #000000 0.4pt solid; PADDING-RIGHT: 1.4pt; BORDER-TOP: #000000 0.4pt solid; PADDING-LEFT: 1.4pt; PADDING-BOTTOM: 1.4pt; BORDER-LEFT: #000000 0.4pt solid; PADDING-TOP: 1.4pt; BORDER-BOTTOM: #000000 0.4pt solid" valign="middle" width="181" height="23"> Chr12:38626477..39126476  </td> <td style="BORDER-RIGHT: #000000 0.4pt solid; PADDING-RIGHT: 1.4pt; BORDER-TOP: #000000 0.4pt solid; PADDING-LEFT: 1.4pt; PADDING-BOTTOM: 1.4pt; BORDER-LEFT: #000000 0.4pt solid; PADDING-TOP: 1.4pt; BORDER-BOTTOM: #000000 0.4pt solid" valign="middle" width="186" height="23"> BCM, Perlegen </td> </tr> <tr> <td style="BORDER-RIGHT: #000000 0.4pt solid; PADDING-RIGHT: 1.4pt; BORDER-TOP: #000000 0.4pt solid; PADDING-LEFT: 1.4pt; PADDING-BOTTOM: 1.4pt; BORDER-LEFT: #000000 0.4pt solid; PADDING-TOP: 1.4pt; BORDER-BOTTOM: #000000 0.4pt solid" valign="middle" width="70" bgcolor="#ffffc4" height="23"> ENr213  </td> <td style="BORDER-RIGHT: #000000 0.4pt solid; PADDING-RIGHT: 1.4pt; BORDER-TOP: #000000 0.4pt solid; PADDING-LEFT: 1.4pt; PADDING-BOTTOM: 1.4pt; BORDER-LEFT: #000000 0.4pt solid; PADDING-TOP: 1.4pt; BORDER-BOTTOM: #000000 0.4pt solid" valign="middle" width="95" height="23"> 18q12.1  </td> <td style="BORDER-RIGHT: #000000 0.4pt solid; PADDING-RIGHT: 1.4pt; BORDER-TOP: #000000 0.4pt solid; PADDING-LEFT: 1.4pt; PADDING-BOTTOM: 1.4pt; BORDER-LEFT: #000000 0.4pt solid; PADDING-TOP: 1.4pt; BORDER-BOTTOM: #000000 0.4pt solid" valign="middle" width="181" height="23"> Chr18:23717221..24217220  </td> <td style="BORDER-RIGHT: #000000 0.4pt solid; PADDING-RIGHT: 1.4pt; BORDER-TOP: #000000 0.4pt solid; PADDING-LEFT: 1.4pt; PADDING-BOTTOM: 1.4pt; BORDER-LEFT: #000000 0.4pt solid; PADDING-TOP: 1.4pt; BORDER-BOTTOM: #000000 0.4pt solid" valign="middle" width="186" height="23"> Illumina, Perlegen </td> </tr> </tbody></table>  References <spanstyle="FONT-SIZE: 12pt; LINE-HEIGHT: 160%; FONT-FAMILY: 휴먼명조,한컴돋움">Ardlie KG, Kruglyak L, Seielstad M. (2002). Patterns of linkage disequilibrium in the human genome. Nat Rev Genet. (4):299-309. Cardon LR, Abecasis GR. (2003). Using haplotype blocks to map human complex trait loci. Trends Genet. 19(3):135-40. Review.  Carlson, C. S. et al. (2003). Additional SNPs and linkage-disequilibrium analyses are necessary for wholegenome association studies in humans. Nature Genet. 33, 518–521. Clark AG, Nielsen R, Signorovitch J, Matise TC, Glanowski S, Heil J, Winn-Deen ES, Holden AL, Lai E. (2003). Linkage disequilibrium and inference of ancestral recombination in 538 single-nucleotide polymorphism clusters across the human genome. Am J Hum Genet. 73(2):285-300.  Daly, M. J., Rioux, J. D., Schaffner, S. F., Hudson, T. J. and Lander, E. S. (2001). High-resolution haplotype structure in the human genome. Nature Genetics 29, 229–232. Dawson E, Abecasis GR, Bumpstead S, Chen Y, Hunt S, Beare DM, Pabial J, Dibling T, Tinsley E, Kirby S, Carter D, Papaspyridonos M, Livingstone S, Ganske R, Lohmussaar E, Zernant J, Tonisson N, Remm M, Magi R, Puurand T, Vilo J, Kurg A, Rice K, Deloukas P, Mott R, Metspalu A, Bentley DR, Cardon LR, Dunham I. (2002). A first-generation linkage disequilibrium map of human chromosome 22. Nature. 418(6897):544-8. Falush D, Stephens M, Pritchard JK (2003). Inference of population structure: Extensions to linked loci and correlated allele frequencies. Genetics. Gabriel SB, Schaffner SF, Nguyen H, Moore JM, Roy J, Blumenstiel B, Higgins J, DeFelice M, Lochner A, Faggart M, Liu-Cordero SN, Rotimi C, Adeyemo A, Cooper R, Ward R, Lander ES, Daly MJ, Altshuler D. (2002). The structure of haplotype blocks in the human genome. 296, 2225-2229. Kang HJ, Choi KO, Kim BD, Kim SS, Kim YJ. (2005). FESD: a Functional Element SNPs Database in human, Nucleic Acids Research, 33, D518-D522. Dana C Crawford, Tushar Bhangale, Na Li, Garrett Hellenthal, Mark J Rieder, Deborah A Nickerson & Matthew Stephens. (2004) Evidence for substantial fine-scale variation in recombination rates across the human genome. Nature Genetics, Nat Genet. 36(7):700-706. Lynn BJ, Stephen PW. (2004). Genetic variation, classification and 'race'. Nature Genetics. 36(11):s28-s33. Lu X, Niu T, Liu JS. (2003). Haplotype information and linkage disequilibrium mapping for single nucleotide polymorphisms. Genome Res. 13(9):2112-7. Phillips MS, Lawrence R, Sachidanandam R, Morris AP, Balding DJ, Donaldson MA, Studebaker JF, Ankener WM, Alfisi SV, Kuo FS, Camisa AL, Pazorov V, Scott KE, Carey BJ, Faith J, Katari G, Bhatti HA, Cyr JM, Derohannessian V, Elosua C, Forman AM, Grecco NM, Hock CR, Kuebler JM, Lathrop JA, Mockler MA, Nachtman EP, Restine SL, Varde SA, Hozza MJ, Gelfand CA, Broxholme J, Abecasis GR, Boyce-Jacino MT, Cardon LR. (2003). Chromosome-wide distribution of haplotype blocks and the role of recombination hot spots. Nat Genet. 33(3):382-7. Pritchard JK, Stephens M, Donnelly P. (2000). Inference of population structure using multilocus genotype data. Genetics, 155:945-959. Reich DE, Cargill M, Bolk S, Ireland J, Sabeti PC, Richter DJ, Lavery T, Kouyoumjian R, Farhadian SF, Ward R, Lander ES. (2001). Linkage disequilibrium in the human genome. Nature. 411(6834):199-204.  Stumpf MP, Goldstein DB. (2003). Demography, recombination hotspot intensity, and the block structure of linkage disequilibrium. Curr Biol. 13(1):1-8.  Tapper WJ, Maniatis N, Morton NE, Collins A. (2003). A metric linkage disequilibrium map of a human chromosome. Ann Hum Genet. 67(Pt 6):487-94.  The International HapMap Consortium. (2003). The International HapMap Project. Nature. 426(6968):789-96.  The International HapMap Consortium. (2005). A haplotype map of the human genome, Nature 437, 1299-1320. The International SNPWorking Group. (2001). A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature 409, 928–933. Wheeler D.L., Church D.M., Edgar R., Federhen S., Helmberg W., Madden T.L., Pontius J.U., Schuler G.D., Schriml L.M., Sequeira E, Suzek T.O., Tatusova T.A. and Wagner L. (2004) Database resources of the national center for biotechnology information: update. Nucleic Acids Res., 32, D35-D40. Zhang K, Sun F, Waterman MS, Chen T. (2003). Haplotype block partition with limited resources and applications to human chromosome 21 haplotype data. Am J Hum Genet. 73(1):63-73.

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