HAPMAPPT01 96 WELL PLATE OF DNA SAMPLES

Description: INTERNATIONAL HAPMAP PROJECT - CEPH (UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE)

Aliquot Size: 50 µg each

Sex: Males: 44 Females: 46

Brief Description: The HAPMAPPT01 plate, from the CEPH Collection, includes a set of 30 trios (90 samples). In addition, there are 5 duplicated samples and 1 buffer control. The concentration of each DNA sample to be plated is normalized and then this concentration is verified. The DNA concentration is 250 ng/µl and there are 50 µg of DNA per well. Once all samples are in place, a DNA fingerprint is determined for each sample to verify the identity on the plate. The specific position on the plates has been optimized by NHGRI to reduce any possible errors in sample identity during the genotyping process. The positions of the 5 duplicated samples and 1 buffer control are indicated by gray shading.

Subsequent to submission and the establishment of cell lines in this panel, a detailed analysis of HapMap data has shown that there are previously unreported family relationships to other members of this panel, as described in Nature 437:1299-1320 (2005). (See Supplementary Table 15 and Supplementary Information on p.12 [PMID: 16255080]).

Payer LM, Steranka JP, Ardeljan D, Walker J, Fitzgerald KC, Calabresi PA, Cooper TA, Burns KH, Alu insertion variants alter mRNA splicing Nucleic acids research: 2018
PubMed ID: 30418605
 
Gamazon ER, Ziliak D, Im HK, Lacroix B, Park DS, Cox NJ, Huang RS, Genetic Architecture of MicroRNA Expression: Implications for the Transcriptome and Complex Traits American journal of human genetics90:1046-63 2011
PubMed ID: 22658545
 
Lurie G, Wilkens LR, Thompson PJ, Shvetsov YB, Matsuno RK, Carney ME, Palmieri RT, Wu AH, Pike MC, Pearce CL, Menon U, Gentry-Maharaj A, Gayther SA, Ramus SJ, Whittemore AS, McGuire V, Sieh W, Pharoah PD, Song H, Gronwald J, Jakubowska A, Cybulski C, Lubinski J, Schildkraut JM, Berchuck A, Krüger Kjær S, Høgdall E, Fasching PA, Beckmann MW, Ekici AB, Hein A, Chenevix-Trench G, Webb PM, Beesley J, Australian Ovarian Cancer Study Group J, Australian Cancer Study Group J, Goodman MT, Ovarian Cancer Association Consortium MT, Estrogen receptor beta rs1271572 polymorphism and invasive ovarian carcinoma risk: pooled analysis within the Ovarian Cancer Association Consortium PloS one6:e20703 2011
PubMed ID: 21673961
 
Cai Q, Wen W, Qu S, Li G, Egan KM, Chen K, Deming SL, Shen H, Shen CY, Gammon MD, Blot WJ, Matsuo K, Haiman CA, Khoo US, Iwasaki M, Santella RM, Zhang L, Fair AM, Hu Z, Wu PE, Signorello LB, Titus-Ernstoff L, Tajima K, Henderson BE, Chan KY, Kasuga Y, Newcomb PA, Zheng H, Cui Y, Wang F, Shieh YL, Iwata H, Le Marchand L, Chan SY, Shrubsole MJ, Trentham-Dietz A, Tsugane S, Garcia-Closas M, Long J, Li C, Shi J, Huang B, Xiang YB, Gao YT, Lu W, Shu XO, Zheng W, Replication and functional genomic analyses of the breast cancer susceptibility locus at 6q251 generalize its importance in women of chinese, Japanese, and European ancestry Cancer research71:1344-55 2011
PubMed ID: 21303983
 
Bansal V, Tewhey R, Leproust EM, Schork NJ, Efficient and cost effective population resequencing by pooling and in-solution hybridization PloS one6:e18353 2011
PubMed ID: 21479135
 
Mills RE, Walter K, Stewart C, Handsaker RE, Chen K, Alkan C, Abyzov A, Yoon SC, Ye K, Cheetham RK, Chinwalla A, Conrad DF, Fu Y, Grubert F, Hajirasouliha I, Hormozdiari F, Iakoucheva LM, Iqbal Z, Kang S, Kidd JM, Konkel MK, Korn J, Khurana E, Kural D, Lam HY, Leng J, Li R, Li Y, Lin CY, Luo R, Mu XJ, Nemesh J, Peckham HE, Rausch T, Scally A, Shi X, Stromberg MP, Stütz AM, Urban AE, Walker JA, Wu J, Zhang Y, Zhang ZD, Batzer MA, Ding L, Marth GT, McVean G, Sebat J, Snyder M, Wang J, Ye K, Eichler EE, Gerstein MB, Hurles ME, Lee C, McCarroll SA, Korbel JO, 1000 Genomes Project JO, Mapping copy number variation by population-scale genome sequencing Nature470:59-65 2010
PubMed ID: 21293372
 
Ziliak D, O'Donnell PH, Im HK, Gamazon ER, Chen P, Delaney S, Shukla S, Das S, Cox NJ, Vokes EE, Cohen EE, Dolan ME, Huang RS, Germline polymorphisms discovered via a cell-based, genome-wide approach predict platinum response in head and neck cancers Translational research : the journal of laboratory and clinical medicine157:265-72 2010
PubMed ID: 21497773
 
Plunkett J, Doniger S, Orabona G, Morgan T, Haataja R, Hallman M, Puttonen H, Menon R, Kuczynski E, Norwitz E, Snegovskikh V, Palotie A, Peltonen L, Fellman V, DeFranco EA, Chaudhari BP, McGregor TL, McElroy JJ, Oetjens MT, Teramo K, Borecki I, Fay J, Muglia L, An evolutionary genomic approach to identify genes involved in human birth timing PLoS genetics7:e1001365 2010
PubMed ID: 21533219
 
Williams HJ, Norton N, Dwyer S, Moskvina V, Nikolov I, Carroll L, Georgieva L, Williams NM, Morris DW, Quinn EM, Giegling I, Ikeda M, Wood J, Lencz T, Hultman C, Lichtenstein P, Thiselton D, Maher BS, Molecular Genetics of Schizophrenia Collaboration (MGS) International Schizophrenia Consortium (ISC), SGENE-plus, GROUP BS, Malhotra AK, Riley B, Kendler KS, Gill M, Sullivan P, Sklar P, Purcell S, Nimgaonkar VL, Kirov G, Holmans P, Corvin A, Rujescu D, Craddock N, Owen MJ, O'Donovan MC, Fine mapping of ZNF804A and genome-wide significant evidence for its involvement in schizophrenia and bipolar disorder Molecular psychiatry16:429-41 2010
PubMed ID: 20368704
 
Kidd JM, Sampas N, Antonacci F, Graves T, Fulton R, Hayden HS, Alkan C, Malig M, Ventura M, Giannuzzi G, Kallicki J, Anderson P, Tsalenko A, Yamada NA, Tsang P, Kaul R, Wilson RK, Bruhn L, Eichler EE, Characterization of missing human genome sequences and copy-number polymorphic insertions Nature methods7:365-71 2010
PubMed ID: 20440878
 
Antonacci F, Kidd JM, Marques-Bonet T, Teague B, Ventura M, Girirajan S, Alkan C, Campbell CD, Vives L, Malig M, Rosenfeld JA, Ballif BC, Shaffer LG, Graves TA, Wilson RK, Schwartz DC, Eichler EE, A large and complex structural polymorphism at 16p121 underlies microdeletion disease risk Nature genetics42:745-50 2010
PubMed ID: 20729854
 
Ramagopalan SV, Heger A, Berlanga AJ, Maugeri NJ, Lincoln MR, Burrell A, Handunnetthi L, Handel AE, Disanto G, Orton SM, Watson CT, Morahan JM, Giovannoni G, Ponting CP, Ebers GC, Knight JC, A ChIP-seq defined genome-wide map of vitamin D receptor binding: associations with disease and evolution Genome research20:1352-60 2010
PubMed ID: 20736230
 
Walters JT, Corvin A, Owen MJ, Williams H, Dragovic M, Quinn EM, Judge R, Smith DJ, Norton N, Giegling I, Hartmann AM, Möller HJ, Muglia P, Moskvina V, Dwyer S, O'Donoghue T, Morar B, Cooper M, Chandler D, Jablensky A, Gill M, Kaladjieva L, Morris DW, O'Donovan MC, Rujescu D, Donohoe G, Psychosis susceptibility gene ZNF804A and cognitive performance in schizophrenia Archives of general psychiatry67:692-700 2010
PubMed ID: 20603450
 
Collins SC, Bray SM, Suhl JA, Cutler DJ, Coffee B, Zwick ME, Warren ST, Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males American journal of medical genetics Part A152A:2512-20 2010
PubMed ID: 20799337
 
Quinn EM, Hill M, Anney R, Gill M, Corvin AP, Morris DW, Evidence for cis-acting regulation of ANK3 and CACNA1C gene expression Bipolar disorders12:440-5 2010
PubMed ID: 20636642
 
Cummings E, Donohoe G, McDonald C, Dinan TG, O'Neill FA, O'Callaghan E, Waddington JL, Murphy KC, Gill M, Morris DW, Corvin A, Clinical symptomatology and the psychosis risk gene ZNF804A Schizophrenia research122:273-5 2010
PubMed ID: 20538430
 
Donohoe G, Rose E, Frodl T, Morris D, Spoletini I, Adriano F, Bernardini S, Caltagirone C, Bossù P, Gill M, Corvin AP, Spalletta G, ZNF804A risk allele is associated with relatively intact gray matter volume in patients with schizophrenia NeuroImage54:2132-7 2010
PubMed ID: 20934520
 
Plunkett J, Doniger S, Morgan T, Haataja R, Hallman M, Puttonen H, Menon R, Kuczynski E, Norwitz E, Snegovskikh V, Palotie A, Peltonen L, Fellman V, DeFranco EA, Chaudhari BP, Oates J, Boutaud O, McGregor TL, McElroy JJ, Teramo K, Borecki I, Fay JC, Muglia LJ, Primate-specific evolution of noncoding element insertion into PLA2G4C and human preterm birth BMC medical genomics3:62 2010
PubMed ID: 21184677
 
Kidd JM, Graves T, Newman TL, Fulton R, Hayden HS, Malig M, Kallicki J, Kaul R, Wilson RK, Eichler EE, A human genome structural variation sequencing resource reveals insights into mutational mechanisms Cell143:837-47 2010
PubMed ID: 21111241
 
Waszak SM, Hasin Y, Zichner T, Olender T, Keydar I, Khen M, Stütz AM, Schlattl A, Lancet D, Korbel JO, Systematic inference of copy-number genotypes from personal genome sequencing data reveals extensive olfactory receptor gene content diversity PLoS computational biology6:e1000988 2010
PubMed ID: 21085617
 
Sudmant PH, Kitzman JO, Antonacci F, Alkan C, Malig M, Tsalenko A, Sampas N, Bruhn L, Shendure J, 1000 Genomes Project J, Eichler EE, Diversity of human copy number variation and multicopy genes Science (New York, NY)330:641-6 2010
PubMed ID: 21030649
 
Pemberton, Trevor J., Wang, Chaolong, Li, Jun Z., and Rosenberg, Noah A., Inference of unexpected genetic relatedness among individuals in HapMap phase III Am J Hum Genet87:457-464 2010
PubMed ID: 20869033
 
O'Shea, S.H., Schwarz, J., Kosyk, O., Ha, M.J., Wright, F.A. and Rusyn, I., In vitro screening for population variability in chemical toxicity Toxicol Sci119(2):398-407 2010
PubMed ID: 20952501
 
Dombroski BA, Nayak RR, Ewens KG, Ankener W, Cheung VG, Spielman RS, Gene expression and genetic variation in response to endoplasmic reticulum stress in human cells American journal of human genetics86:719-29 2010
PubMed ID: 20398888
 
Prescott NJ, Dominy KM, Kubo M, Lewis CM, Fisher SA, Redon R, Huang N, Stranger BE, Blaszczyk K, Hudspith B, Parkes G, Hosono N, Yamazaki K, Onnie CM, Forbes A, Dermitzakis ET, Nakamura Y, Mansfield JC, Sanderson J, Hurles ME, Roberts RG, Mathew CG, Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease Human molecular genetics19:1828-39 2010
PubMed ID: 20106866
 
Carvalho FM, Tinoco EM, Deeley K, Duarte PM, Faveri M, Marques MR, Mendonça AC, Wang X, Cuenco K, Menezes R, Garlet GP, Vieira AR, FAM5C contributes to aggressive periodontitis PloS one5:e10053 2010
PubMed ID: 20383335
 
Terry KL, Tworoger SS, Goode EL, Gates MA, Titus-Ernstoff L, Kelemen LE, Sellers TA, Hankinson SE, Cramer DW, MTHFR polymorphisms in relation to ovarian cancer risk Gynecologic oncology119:319-24 2010
PubMed ID: 20817226
 
Pittman AM, Naranjo S, Jalava SE, Twiss P, Ma Y, Olver B, Lloyd A, Vijayakrishnan J, Qureshi M, Broderick P, van Wezel T, Morreau H, Tuupanen S, Aaltonen LA, Alonso ME, Manzanares M, Gavilán A, Visakorpi T, Gómez-Skarmeta JL, Houlston RS, Allelic variation at the 8q233 colorectal cancer risk locus functions as a cis-acting regulator of EIF3H PLoS genetics6:319-24 2010
PubMed ID: 20862326
 
Gyawali S, Subaran R, Weissman MM, Hershkowitz D, McKenna MC, Talati A, Fyer AJ, Wickramaratne P, Adams PB, Hodge SE, Schmidt CJ, Bannon MJ, Glatt CE, Association of a polyadenylation polymorphism in the serotonin transporter and panic disorder Biological psychiatry67:331-8 2009
PubMed ID: 19969287
 
Ronald A, Butcher LM, Docherty S, Davis OS, Schalkwyk LC, Craig IW, Plomin R, A genome-wide association study of social and non-social autistic-like traits in the general population using pooled DNA, 500 K SNP microarrays and both community and diagnosed autism replication samples Behavior genetics40:31-45 2009
PubMed ID: 20012890
 
Schalkwyk LC, Meaburn EL, Smith R, Dempster EL, Jeffries AR, Davies MN, Plomin R, Mill J, Allelic skewing of DNA methylation is widespread across the genome American journal of human genetics86:196-212 2009
PubMed ID: 20159110
 
Lemmers RJ, van der Vliet PJ, van der Gaag KJ, Zuniga S, Frants RR, de Knijff P, van der Maarel SM, Worldwide population analysis of the 4q and 10q subtelomeres identifies only four discrete interchromosomal sequence transfers in human evolution American journal of human genetics86:364-77 2009
PubMed ID: 20206332
 
Bungum M, Giwercman A, Bungum L, Humaidan P, Rastkhani H, Giwercman YL, Polymorphisms in the protein C inhibitor gene in in vitro fertilization failure Fertility and sterility93:277-9 2009
PubMed ID: 19765701
 
Schildkraut JM, Iversen ES, Wilson MA, Clyde MA, Moorman PG, Palmieri RT, Whitaker R, Bentley RC, Marks JR, Berchuck A, Association between DNA damage response and repair genes and risk of invasive serous ovarian cancer PloS one5:e10061 2009
PubMed ID: 20386703
 
Wernli KJ, Newcomb PA, Wang Y, Makar KW, Shadman M, Chia VM, Burnett-Hartman A, Wurscher MA, Zheng Y, Mandelson MT, Body size, IGF and growth hormone polymorphisms, and colorectal adenomas and hyperplastic polyps Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society20:305-9 2009
PubMed ID: 20580999
 
Benford ML, VanCleave TT, Lavender NA, Kittles RA, Kidd LR, 8q24 sequence variants in relation to prostate cancer risk among men of African descent: a case-control study BMC cancer10:334 2009
PubMed ID: 20584312
 
Abraham RL, Yang T, Blair M, Roden DM, Darbar D, Augmented potassium current is a shared phenotype for two genetic defects associated with familial atrial fibrillation Journal of molecular and cellular cardiology48:181-90 2009
PubMed ID: 19646991
 
Traherne JA, Martin M, Ward R, Ohashi M, Pellett F, Gladman D, Middleton D, Carrington M, Trowsdale J, Mechanisms of copy number variation and hybrid gene formation in the KIR immune gene complex Human molecular genetics19:737-51 2009
PubMed ID: 19959527
 
Anderson DH, Radeke MJ, Gallo NB, Chapin EA, Johnson PT, Curletti CR, Hancox LS, Hu J, Ebright JN, Malek G, Hauser MA, Rickman CB, Bok D, Hageman GS, Johnson LV, The pivotal role of the complement system in aging and age-related macular degeneration: hypothesis re-visited Progress in retinal and eye research29:95-112 2009
PubMed ID: 19961953
 
Kato M, Kawaguchi T, Ishikawa S, Umeda T, Nakamichi R, Shapero MH, Jones KW, Nakamura Y, Aburatani H, Tsunoda T, Population-genetic nature of copy number variations in the human genome Human molecular genetics19:761-73 2009
PubMed ID: 19966329
 
Haralambieva IH, Dhiman N, Ovsyannikova IG, Vierkant RA, Pankratz VS, Jacobson RM, Poland GA, 2'-5'-Oligoadenylate synthetase single-nucleotide polymorphisms and haplotypes are associated with variations in immune responses to rubella vaccine Human immunology71:383-91 2009
PubMed ID: 20079393
 
Wendland JR, Moya PR, Timpano KR, Anavitarte AP, Kruse MR, Wheaton MG, Ren-Patterson RF, Murphy DL, A haplotype containing quantitative trait loci for SLC1A1 gene expression and its association with obsessive-compulsive disorder Archives of general psychiatry66:408-16 2009
PubMed ID: 19349310
 
Chen J, Zheng H, Bei JX, Sun L, Jia WH, Li T, Zhang F, Seielstad M, Zeng YX, Zhang X, Liu J, Genetic Structure of the Han Chinese Population Revealed by Genome-wide SNP Variation American journal of human genetics66:408-16 2009
PubMed ID: 19944401
 
Han S, Kim-Howard X, Deshmukh H, Kamatani Y, Viswanathan P, Guthridge JM, Thomas K, Kaufman KM, Ojwang J, Rojas-Villarraga A, Baca V, Orozco L, Rhodes B, Choi CB, Gregersen PK, Merrill JT, James JA, Gaffney PM, Moser KL, Jacob CO, Kimberly RP, Harley JB, Bae SC, Anaya JM, Alarcón-Riquelme ME, Matsuda K, Vyse TJ, Nath SK, Evaluation of imputation-based association in and around the integrin-alpha-M (ITGAM) gene and replication of robust association between a non-synonymous functional variant within ITGAM and systemic lupus erythematosus (SLE) Human molecular genetics18:1171-80 2009
PubMed ID: 19129174
 
Arnold S, Pelet A, Amiel J, Borrego S, Hofstra R, Tam P, Ceccherini I, Lyonnet S, Sherman S, Chakravarti A, Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association Human mutation30:771-5 2009
PubMed ID: 19306335
 
Kao WH, Arking DE, Post W, Rea TD, Sotoodehnia N, Prineas RJ, Bishe B, Doan BQ, Boerwinkle E, Psaty BM, Tomaselli GF, Coresh J, Siscovick DS, Marbán E, Spooner PM, Burke GL, Chakravarti A, Genetic variations in nitric oxide synthase 1 adaptor protein are associated with sudden cardiac death in US white community-based populations Circulation119:940-51 2009
PubMed ID: 19204306
 
Carroll LS, Williams NM, Moskvina V, Russell E, Norton N, Williams HJ, Peirce T, Georgieva L, Dwyer S, Grozeva D, Greene E, Farmer A, McGuffin P, Morris DW, Corvin A, Gill M, Rujescu D, Sham P, Holmans P, Jones I, Kirov G, Craddock N, O'Donovan MC, Owen MJ, Evidence for rare and common genetic risk variants for schizophrenia at protein kinase C, alpha Molecular psychiatry15:1101-11 2009
PubMed ID: 19786960
 
Gilks WP, Allott EH, Donohoe G, Cummings E, International Schizophrenia Consortium E, Gill M, Corvin AP, Morris DW, Replicated genetic evidence supports a role for HOMER2 in schizophrenia Neuroscience letters468:229-33 2009
PubMed ID: 19914345
 
Donohoe G, Walters J, Morris DW, Quinn EM, Judge R, Norton N, Giegling I, Hartmann AM, Möller HJ, Muglia P, Williams H, Moskvina V, Peel R, O'Donoghue T, Owen MJ, O'Donovan MC, Gill M, Rujescu D, Corvin A, Influence of NOS1 on verbal intelligence and working memory in both patients with schizophrenia and healthy control subjects Archives of general psychiatry66:1045-54 2009
PubMed ID: 19805695
 
Müssig K, Staiger H, Machicao F, Stancáková A, Kuusisto J, Laakso M, Thamer C, Machann J, Schick F, Claussen CD, Stefan N, Fritsche A, Häring HU, Association of common genetic variation in the FOXO1 gene with beta-cell dysfunction, impaired glucose tolerance, and type 2 diabetes The Journal of clinical endocrinology and metabolism94:1353-60 2009
PubMed ID: 19141580
 
Antonacci F, Kidd JM, Marques-Bonet T, Ventura M, Siswara P, Jiang Z, Eichler EE, Characterization of six human disease-associated inversion polymorphisms Human molecular genetics94:1353-60 2009
PubMed ID: 19383631
 
Ionita-Laza I, Lange C, M Laird N, Estimating the number of unseen variants in the human genome Proceedings of the National Academy of Sciences of the United States of America106:5008-13 2009
PubMed ID: 19276111
 
Goode EL, Fridley BL, Vierkant RA, Cunningham JM, Phelan CM, Anderson S, Rider DN, White KL, Pankratz VS, Song H, Hogdall E, Kjaer SK, Whittemore AS, DiCioccio R, Ramus SJ, Gayther SA, Schildkraut JM, Pharaoh PP, Sellers TA, Candidate gene analysis using imputed genotypes: cell cycle single-nucleotide polymorphisms and ovarian cancer risk Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology18:935-44 2009
PubMed ID: 19258477
 
Brand OJ, Barrett JC, Simmonds MJ, Newby PR, McCabe CJ, Bruce CK, Kysela B, Carr-Smith JD, Brix T, Hunt PJ, Wiersinga WM, Hegedüs L, Connell J, Wass JA, Franklyn JA, Weetman AP, Heward JM, Gough SC, Association of the thyroid stimulating hormone receptor gene (TSHR) with Graves' disease Human molecular genetics18:1704-13 2009
PubMed ID: 19244275
 
Li Y, Chang M, Schrodi SJ, Callis-Duffin KP, Matsunami N, Civello D, Bui N, Catanese JJ, Leppert MF, Krueger GG, Begovich AB, The 5q31 variants associated with psoriasis and Crohn's disease are distinct Human molecular genetics17:2978-85 2008
PubMed ID: 18614543
 
Hartford CM, Duan S, Delaney SM, Mi S, Kistner EO, Lamba JK, Huang RS, Dolan ME, Population-specific genetic variants important in susceptibility to cytarabine arabinoside cytotoxicity Blood113:2145-53 2008
PubMed ID: 19109566
 
Dunbar AJ, Gondek LP, O'Keefe CL, Makishima H, Rataul MS, Szpurka H, Sekeres MA, Wang XF, McDevitt MA, Maciejewski JP, 250K single nucleotide polymorphism array karyotyping identifies acquired uniparental disomy and homozygous mutations, including novel missense substitutions of c-Cbl, in myeloid malignancies Cancer research68:10349-57 2008
PubMed ID: 19074904
 
Enjuanes A, Benavente Y, Bosch F, Martín-Guerrero I, Colomer D, Pérez-Alvarez S, Reina O, Ardanaz MT, Jares P, García-Orad A, Pujana MA, Montserrat E, de Sanjosé S, Campo E, Genetic variants in apoptosis and immunoregulation-related genes are associated with risk of chronic lymphocytic leukemia Cancer research68:10178-86 2008
PubMed ID: 19074885
 
Nica AC, Dermitzakis ET, Using gene expression to investigate the genetic basis of complex disorders Human molecular genetics17:R129-34 2008
PubMed ID: 18852201
 
Bostrom MA, Freedman BI, Langefeld CD, Liu L, Hicks PJ, Bowden DW, Association of adiponectin gene polymorphisms with type 2 diabetes in an African American population enriched for nephropathy Diabetes58:499-504 2008
PubMed ID: 19056609
 
French D, Yang W, Cheng C, Raimondi SC, Mullighan CG, Downing JR, Evans WE, Pui CH, Relling MV, Acquired variation outweighs inherited variation in whole genome analysis of methotrexate polyglutamate accumulation in leukemia Blood58:499-504 2008
PubMed ID: 19066393
 
Homer N, Tembe WD, Szelinger S, Redman M, Stephan DA, Pearson JV, Nelson SF, Craig D, Multimarker analysis and imputation of multiple platform pooling-based genome-wide association studies Bioinformatics (Oxford, England)24:1896-902 2008
PubMed ID: 18617537
 
Bansal V, Bafna V, HapCUT: an efficient and accurate algorithm for the haplotype assembly problem Bioinformatics (Oxford, England)24:i153-9 2008
PubMed ID: 18689818
 
McKay GJ, Silvestri G, Patterson CC, Hogg RE, Chakravarthy U, Hughes AE, Further assessment of the complement component 2 and factor B region associated with age-related macular degeneration Investigative ophthalmology & visual science50:533-9 2008
PubMed ID: 18806297
 
Orho-Melander M, Melander O, Guiducci C, Perez-Martinez P, Corella D, Roos C, Tewhey R, Rieder MJ, Hall J, Abecasis G, Tai ES, Welch C, Arnett DK, Lyssenko V, Lindholm E, Saxena R, de Bakker PI, Burtt N, Voight BF, Hirschhorn JN, Tucker KL, Hedner T, Tuomi T, Isomaa B, Eriksson KF, Taskinen MR, Wahlstrand B, Hughes TE, Parnell LD, Lai CQ, Berglund G, Peltonen L, Vartiainen E, Jousilahti P, Havulinna AS, Salomaa V, Nilsson P, Groop L, Altshuler D, Ordovas JM, Kathiresan S, Common missense variant in the glucokinase regulatory protein gene is associated with increased plasma triglyceride and C-reactive protein but lower fasting glucose concentrations Diabetes57:3112-21 2008
PubMed ID: 18678614
 
Lachance J, A fundamental relationship between genotype frequencies and fitnesses Genetics180:1087-93 2008
PubMed ID: 18780726
 
Keene KL, Mychaleckyj JC, Smith SG, Leak TS, Perlegas PS, Langefeld CD, Freedman BI, Rich SS, Bowden DW, Sale MM, Association of the distal region of the ectonucleotide pyrophosphatase/phosphodiesterase 1 gene with type 2 diabetes in an African-American population enriched for nephropathy Diabetes57:1057-62 2008
PubMed ID: 18184924
 
Johnson AD, Handsaker RE, Pulit SL, Nizzari MM, O'Donnell CJ, de Bakker PI, SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap Bioinformatics (Oxford, England)24:2938-9 2008
PubMed ID: 18974171
 
Alonso S, López S, Izagirre N, de la Rúa C, Overdominance in the human genome and olfactory receptor activity Molecular biology and evolution25:997-1001 2008
PubMed ID: 18296703
 
Huang RS, Chen P, Wisel S, Duan S, Zhang W, Cook EH, Das S, Cox NJ, Dolan ME, Population-specific GSTM1 copy number variation Human molecular genetics18:366-72 2008
PubMed ID: 18948376
 
Gusev A, Lowe JK, Stoffel M, Daly MJ, Altshuler D, Breslow JL, Friedman JM, Pe'er I, Whole population, genome-wide mapping of hidden relatedness Genome research19:318-26 2008
PubMed ID: 18971310
 
Benovoy D, Kwan T, Majewski J, Effect of polymorphisms within probe-target sequences on olignonucleotide microarray experiments Nucleic acids research36:4417-23 2008
PubMed ID: 18596082
 
Pearce CL, Wu AH, Gayther SA, Bale AE, Australian Cancer Study (Ovarian Cancer) and Australian Cancer Study Group AE, Beck PA, Beesley J, Chanock S, Cramer DW, DiCioccio R, Edwards R, Fredericksen ZS, Garcia-Closas M, Goode EL, Green AC, Hartmann LC, Hogdall E, Kjaer SK, Lissowska J, McGuire V, Modugno F, Moysich K, Ness RB, Ramus SJ, Risch HA, Sellers TA, Song H, Stram DO, Terry KL, Webb PM, Whiteman DC, Whittemore AS, Zheng W, Pharoah PD, Chenevix-Trench G, Pike MC, Schildkraut J, Berchuck A, Ovarian Cancer Association Consortium A, Progesterone receptor variation and risk of ovarian cancer is limited to the invasive endometrioid subtype: results from the Ovarian Cancer Association Consortium pooled analysis British journal of cancer98:282-8 2008
PubMed ID: 18219286
 
Huang RS, Duan S, Kistner EO, Bleibel WK, Delaney SM, Fackenthal DL, Das S, Dolan ME, Genetic variants contributing to daunorubicin-induced cytotoxicity Cancer research68:3161-8 2008
PubMed ID: 18451141
 
Yngvadottir B, Xue Y, Searle S, Hunt S, Delgado M, Morrison J, Whittaker P, Deloukas P, Tyler-Smith C, A genome-wide survey of the prevalence and evolutionary forces acting on human nonsense SNPs American journal of human genetics84:224-34 2008
PubMed ID: 19200524
 
Arking DE, Khera A, Xing C, Kao WH, Post W, Boerwinkle E, Chakravarti A, Multiple independent genetic factors at NOS1AP modulate the QT interval in a multi-ethnic population PloS one4:e4333 2008
PubMed ID: 19180230
 
O'Donovan MC, Norton N, Williams H, Peirce T, Moskvina V, Nikolov I, Hamshere M, Carroll L, Georgieva L, Dwyer S, Holmans P, Marchini JL, Spencer CC, Howie B, Leung HT, Giegling I, Hartmann AM, Möller HJ, Morris DW, Shi Y, Feng G, Hoffmann P, Propping P, Vasilescu C, Maier W, Rietschel M, Zammit S, Schumacher J, Quinn EM, Schulze TG, Iwata N, Ikeda M, Darvasi A, Shifman S, He L, Duan J, Sanders AR, Levinson DF, Adolfsson R, Osby U, Terenius L, Jönsson EG, Cichon S, Nöthen MM, Gill M, Corvin AP, Rujescu D, Gejman PV, Kirov G, Craddock N, Williams NM, Owen MJ, Molecular Genetics of Schizophrenia Collaboration MJ, Analysis of 10 independent samples provides evidence for association between schizophrenia and a SNP flanking fibroblast growth factor receptor 2 Molecular psychiatry14:30-6 2008
PubMed ID: 18813210
 
Levy D, Ehret GB, Rice K, Verwoert GC, Launer LJ, Dehghan A, Glazer NL, Morrison AC, Johnson AD, Aspelund T, Aulchenko Y, Lumley T, Köttgen A, Vasan RS, Rivadeneira F, Eiriksdottir G, Guo X, Arking DE, Mitchell GF, Mattace-Raso FU, Smith AV, Taylor K, Scharpf RB, Hwang SJ, Sijbrands EJ, Bis J, Harris TB, Ganesh SK, O'Donnell CJ, Hofman A, Rotter JI, Coresh J, Benjamin EJ, Uitterlinden AG, Heiss G, Fox CS, Witteman JC, Boerwinkle E, Wang TJ, Gudnason V, Larson MG, Chakravarti A, Psaty BM, van Duijn CM, Genome-wide association study of blood pressure and hypertension Nature genetics41:677-87 2008
PubMed ID: 19430479
 
Zhao Y, Marotta M, Eichler EE, Eng C, Tanaka H, Linkage disequilibrium between two high-frequency deletion polymorphisms: implications for association studies involving the glutathione-S transferase (GST) genes PLoS genetics5:e1000472 2008
PubMed ID: 19424424
 
Huang RS, Duan S, Kistner EO, Zhang W, Bleibel WK, Cox NJ, Dolan ME, Identification of genetic variants and gene expression relationships associated with pharmacogenes in humans Pharmacogenetics and genomics18:545-9 2008
PubMed ID: 18496134
 
Verlaan DJ, Ge B, Grundberg E, Hoberman R, Lam KC, Koka V, Dias J, Gurd S, Martin NW, Mallmin H, Nilsson O, Harmsen E, Dewar K, Kwan T, Pastinen T, Targeted screening of cis-regulatory variation in human haplotypes Genome research19:118-27 2008
PubMed ID: 18971308
 
Gajdos ZK, Butler JL, Henderson KD, He C, Supelak PJ, Egyud M, Price A, Reich D, Clayton PE, Le Marchand L, Hunter DJ, Henderson BE, Palmert MR, Hirschhorn JN, Association studies of common variants in 10 hypogonadotropic hypogonadism genes with age at menarche The Journal of clinical endocrinology and metabolism93:4290-8 2008
PubMed ID: 18728166
 
Sohn MH, Lee JH, Kim KW, Kim SW, Lee SH, Kim KE, Kim KH, Lee CG, Elias JA, Lee MG, Genetic variation in the promoter region of chitinase 3-like 1 is associated with atopy American journal of respiratory and critical care medicine179:449-56 2008
PubMed ID: 19106306
 
Zobel DP, Andreasen CH, Grarup N, Eiberg H, Sørensen TI, Sandbaek A, Lauritzen T, Borch-Johnsen K, Jørgensen T, Pedersen O, Hansen T, Variants near MC4R are associated with obesity and influence obesity-related quantitative traits in a population of middle-aged people: studies of 14,940 Danes Diabetes58:757-64 2008
PubMed ID: 19073769
 
Cooper ML, Adami HO, Grönberg H, Wiklund F, Green FR, Rayman MP, Interaction between single nucleotide polymorphisms in selenoprotein P and mitochondrial superoxide dismutase determines prostate cancer risk Cancer research68:10171-7 2008
PubMed ID: 19074884
 
Beleza-Meireles A, Töhönen V, Söderhäll C, Schwentner C, Radmayr C, Kockum I, Nordenskjöld A, Activating transcription factor 3: a hormone responsive gene in the etiology of hypospadias European journal of endocrinology / European Federation of Endocrine Societies158:729-39 2008
PubMed ID: 18426833
 
Moore AF, Jablonski KA, McAteer JB, Saxena R, Pollin TI, Franks PW, Hanson RL, Shuldiner AR, Knowler WC, Altshuler D, Florez JC, Diabetes Prevention Program Research Group JC, Extension of type 2 diabetes genome-wide association scan results in the diabetes prevention program Diabetes57:2503-10 2008
PubMed ID: 18544707
 
Perry GH, Yang F, Marques-Bonet T, Murphy C, Fitzgerald T, Lee AS, Hyland C, Stone AC, Hurles ME, Tyler-Smith C, Eichler EE, Carter NP, Lee C, Redon R, Copy number variation and evolution in humans and chimpanzees Genome research18:1698-710 2008
PubMed ID: 18775914
 
Zhang W, Bleibel WK, Roe CA, Cox NJ, Eileen Dolan M, Gender-specific differences in expression in human lymphoblastoid cell lines Pharmacogenetics and genomics17:447-50 2007
PubMed ID: 17502836
 
Huang RS, Duan S, Bleibel WK, Kistner EO, Zhang W, Clark TA, Chen TX, Schweitzer AC, Blume JE, Cox NJ, Dolan ME, A genome-wide approach to identify genetic variants that contribute to etoposide-induced cytotoxicity Proceedings of the National Academy of Sciences of the United States of America104:9758-63 2007
PubMed ID: 17537913
 
Gayther SA, Song H, Ramus SJ, Kjaer SK, Whittemore AS, Quaye L, Tyrer J, Shadforth D, Hogdall E, Hogdall C, Blaeker J, DiCioccio R, McGuire V, Webb PM, Beesley J, Green AC, Whiteman DC, Australian Ovarian Cancer Study Group DC, Goodman MT, Lurie G, Carney ME, Modugno F, Ness RB, Edwards RP, Moysich KB, Goode EL, Couch FJ, Cunningham JM, Sellers TA, Wu AH, Pike MC, Iversen ES, Marks JR, Garcia-Closas M, Brinton L, Lissowska J, Peplonska B, Easton DF, Jacobs I, Ponder BA, Schildkraut J, Pearce CL, Chenevix-Trench G, Berchuck A, Pharoah PD, Ovarian Cancer Association Consortium PD, Tagging single nucleotide polymorphisms in cell cycle control genes and susceptibility to invasive epithelial ovarian cancer Cancer research67:3027-35 2007
PubMed ID: 17409409
 
Xu Y, Xue Y, Asan Y, Daly A, Wu L, Tyler-Smith C, Variation of the oxytocin/neurophysin I (OXT) gene in four human populations Journal of human genetics53:637-43 2007
PubMed ID: 18566739
 
Hosono N, Kubo M, Tsuchiya Y, Sato H, Kitamoto T, Saito S, Ohnishi Y, Nakamura Y, Multiplex PCR-based real-time invader assay (mPCR-RETINA): a novel SNP-based method for detecting allelic asymmetries within copy number variation regions Human mutation29:182-9 2007
PubMed ID: 17879341
 
The International HapMap Consortium , (Participants are arranged by institution and then alphabetically within institutions except for Principal Investigators and Project Leaders, as indicated.) , Genotyping centres: Perlegen Sciences , Frazer KA, Ballinger DG, Cox DR, Hinds DA, Stuve LL, Baylor College of Medicine and ParAllele BioScience LL, Gibbs RA, Belmont JW, Boudreau A, Hardenbol P, Leal SM, Pasternak S, Wheeler DA, Willis TD, Yu F, Beijing Genomics Institute F, Yang H, Zeng C, Gao Y, Hu H, Hu W, Li C, Lin W, Liu S, Pan H, Tang X, Wang J, Wang W, Yu J, Zhang B, Zhang Q, Zhao H, Zhao H, Zhou J, Broad Institute of Harvard and Massachusetts Institute of Technology J, Gabriel SB, Barry R, Blumenstiel B, Camargo A, Defelice M, Faggart M, Goyette M, Gupta S, Moore J, Nguyen H, Onofrio RC, Parkin M, Roy J, Stahl E, Winchester E, Ziaugra L, Altshuler D, Chinese National Human Genome Center at Beijing D, Shen Y, Yao Z, Chinese National Human Genome Center at Shanghai Z, Huang W, Chu X, He Y, Jin L, Liu Y, Shen Y, Sun W, Wang H, Wang Y, Wang Y, Xiong X, Xu L, Chinese University of Hong Kong L, Waye MM, Tsui SK, Hong Kong University of Science and Technology SK, Xue H, Wong JT, Illumina JT, Galver LM, Fan JB, Gunderson K, Murray SS, Oliphant AR, Chee MS, McGill University and Génome Québec Innovation Centre MS, Montpetit A, Chagnon F, Ferretti V, Leboeuf M, Olivier JF, Phillips MS, Roumy S, Sallée C, Verner A, Hudson TJ, University of California at San Francisco and Washington University TJ, Kwok PY, Cai D, Koboldt DC, Miller RD, Pawlikowska L, Taillon-Miller P, Xiao M, University of Hong Kong M, Tsui LC, Mak W, Qiang Song Y, Tam PK, University of Tokyo and RIKEN PK, Nakamura Y, Kawaguchi T, Kitamoto T, Morizono T, Nagashima A, Ohnishi Y, Sekine A, Tanaka T, Tsunoda T, Wellcome Trust Sanger Institute T, Deloukas P, Bird CP, Delgado M, Dermitzakis ET, Gwilliam R, Hunt S, Morrison J, Powell D, Stranger BE, Whittaker P, Bentley DR, Analysis groups: Broad Institute DR, Daly MJ, de Bakker PI, Barrett J, Chretien YR, Maller J, McCarroll S, Patterson N, Pe'er I, Price A, Purcell S, Richter DJ, Sabeti P, Saxena R, Schaffner SF, Sham PC, Varilly P, Altshuler D, Cold Spring Harbor Laboratory D, Stein LD, Krishnan L, Vernon Smith A, Tello-Ruiz MK, Thorisson GA, Johns Hopkins University School of Medicine GA, Chakravarti A, Chen PE, Cutler DJ, Kashuk CS, Lin S, University of Michigan S, Abecasis GR, Guan W, Li Y, Munro HM, Steve Qin Z, Thomas DJ, University of Oxford DJ, McVean G, Auton A, Bottolo L, Cardin N, Eyheramendy S, Freeman C, Marchini J, Myers S, Spencer C, Stephens M, Donnelly P, University of Oxford,Wellcome Trust Centre for Human Genetics P, Cardon LR, Clarke G, Evans DM, Morris AP, Weir BS, RIKEN BS, Tsunoda T, US National Institutes of Health T, Mullikin JC, US National Institutes of Health National Center for Biotechnology Information JC, Sherry ST, Feolo M, Skol A, Community engagement/public consultation and sample collection groups: Beijing Normal University and Beijing Genomics Institute A, Zhang H, Zeng C, Zhao H, Health Sciences University of Hokkaido, Eubios Ethics Institute, and Shinshu University H, Matsuda I, Fukushima Y, Macer DR, Suda E, Howard University and University of Ibadan E, Rotimi CN, Adebamowo CA, Ajayi I, Aniagwu T, Marshall PA, Nkwodimmah C, Royal CD, University of Utah CD, Leppert MF, Dixon M, Peiffer A, Ethical, legal and social issues: Chinese Academy of Social Sciences A, Qiu R, Genetic Interest Group R, Kent A, Kyoto University A, Kato K, Nagasaki University K, Niikawa N, University of Ibadan School of Medicine N, Adewole IF, University of Montréal IF, Knoppers BM, University of Oklahoma BM, Foster MW, Vanderbilt University MW, Wright Clayton E, Wellcome Trust E, Watkin J, SNP discovery: Baylor College of Medicine J, Gibbs RA, Belmont JW, Muzny D, Nazareth L, Sodergren E, Weinstock GM, Wheeler DA, Yakub I, Broad Institute of Harvard and Massachusetts Institute of Technology I, Gabriel SB, Onofrio RC, Richter DJ, Ziaugra L, Birren BW, Daly MJ, Altshuler D, Washington University D, Wilson RK, Fulton LL, Wellcome Trust Sanger Institute LL, Rogers J, Burton J, Carter NP, Clee CM, Griffiths M, Jones MC, McLay K, Plumb RW, Ross MT, Sims SK, Willey DL, Scientific management: Chinese Academy of Sciences DL, Chen Z, Han H, Kang L, Genome Canada L, Godbout M, Wallenburg JC, Génome Québec JC, L'archevêque P, Bellemare G, Japanese Ministry of Education, Culture, Sports, Science and Technology G, Saeki K, Ministry of Science and Technology of the People’s Republic of China K, Wang H, An D, Fu H, Li Q, Wang Z, The Human Genetic Resource Administration of China Z, Wang R, The SNP Consortium R, Holden AL, US National Institutes of Health AL, Brooks LD, McEwen JE, Guyer MS, Ota Wang V, Peterson JL, Shi M, Spiegel J, Sung LM, Zacharia LF, Collins FS, Wellcome Trust FS, Kennedy K, Jamieson R, Stewart J, A second generation human haplotype map of over 31 million SNPs Nature449:851-861 2007
PubMed ID: 17943122
 
Zhang W, Duan S, Kistner EO, Bleibel WK, Huang RS, Clark TA, Chen TX, Schweitzer AC, Blume JE, Cox NJ, Dolan ME, Evaluation of genetic variation contributing to differences in gene expression between populations American journal of human genetics82:631-40 2007
PubMed ID: 18313023
 
Smith EM, Wang X, Littrell J, Eckert J, Cole R, Kissebah AH, Olivier M, Comparison of linkage disequilibrium patterns between the HapMap CEPH samples and a family-based cohort of Northern European descent Genomics88:407-14 2006
PubMed ID: 16713172
 
Tian C, Hinds DA, Shigeta R, Kittles R, Ballinger DG, Seldin MF, A genomewide single-nucleotide-polymorphism panel with high ancestry information for African American admixture mapping American journal of human genetics79:640-9 2006
PubMed ID: 16960800
 
McCarroll SA, Hadnott TN, Perry GH, Sabeti PC, Zody MC, Barrett JC, Dallaire S, Gabriel SB, Lee C, Daly MJ, Altshuler DM; International HapMap Consortium., Common deletion polymorphisms in the human genome. Nat Genet38(1):86-92 2006
PubMed ID: 16468122
 
O'Shaughnessy KM, HapMap, pharmacogenomics, and the goal of personalized prescribing British journal of clinical pharmacology61:783-6 2006
PubMed ID: 16722846
 
Steemers FJ, Chang W, Lee G, Barker DL, Shen R, Gunderson KL, Whole-genome genotyping with the single-base extension assay. Nat Methods3(1):31-3 2006
PubMed ID: 16369550
 
Newman TL, Rieder MJ, Morrison VA, Sharp AJ, Smith JD, Sprague LJ, Kaul R, Carlson CS, Olson MV, Nickerson DA, Eichler EE, High-throughput genotyping of intermediate-size structural variation Human molecular genetics15:1159-67 2006
PubMed ID: 16497726
 
Kathiresan S, Larson MG, Vasan RS, Guo CY, Gona P, Keaney JF, Wilson PW, Newton-Cheh C, Musone SL, Camargo AL, Drake JA, Levy D, O'Donnell CJ, Hirschhorn JN, Benjamin EJ, Contribution of clinical correlates and 13 C-reactive protein gene polymorphisms to interindividual variability in serum C-reactive protein level Circulation113:1415-23 2006
PubMed ID: 16534007
 
Ptak SE, Hinds DA, Koehler K, Nickel B, Patil N, Ballinger DG, Przeworski M, Frazer KA, Paabo S, Fine-scale recombination patterns differ between chimpanzees and humans. Nat Genet37(4):429-34 2005
PubMed ID: 15723063
 
Shukla SJ, Dolan ME, Use of CEPH and non-CEPH lymphoblast cell lines in pharmacogenetic studies Pharmacogenomics6:303-10 2005
PubMed ID: 16013961
 
Jorde LB, Evolution. Where we're hot, they're not. Science308(5718):60-2 2005
PubMed ID: 15802591
 
Kammerer S, Roth RB, Hoyal CR, Reneland R, Marnellos G, Kiechle M, Schwarz-Boeger U, Griffiths LR, Ebner F, Rehbock J, Cantor CR, Nelson MR, Braun A, Association of the NuMA region on chromosome 11q13 with breast cancer susceptibility. Proc Natl Acad Sci U S A102(6):2004-9 2005
PubMed ID: 15684076
 
Klein RJ, Zeiss C, Chew EY, Tsai JY, Sackler RS, Haynes C, Henning AK, SanGiovanni JP, Mane SM, Mayne ST, Bracken MB, Ferris FL, Ott J, Barnstable C, Hoh J, Complement factor H polymorphism in age-related macular degeneration. Science308(5720):385-9 2005
PubMed ID: 15761122
 
Qu H, Tessier MC, Hudson TJ, Polychronakos C, Confirmation of the association of the R620W polymorphism in the protein tyrosine phosphatase PTPN22 with type 1 diabetes in a family based study. J Med Genet42(3):266-70 2005
PubMed ID: 15744042
 
Pittman AM, Myers AJ, Abou-Sleiman P, Fung HC, Kaleem M, Marlowe L, Duckworth J, Leung D, Williams D, Kilford L, Thomas N, Morris CM, Dickson D, Wood NW, Hardy J, Lees AJ, de Silva R, Linkage disequilibrium fine mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration. J Med Genet42(11):837-46 2005
PubMed ID: 15792962
 
Di Paola J, Jugessur A, Goldman T, Reiland J, Tallman D, Sayago C, Murray JC, Platelet glycoprotein I(b)alpha and integrin alpha2 beta1 polymorphisms: gene frequencies and linkage disequilibrium in a population diversity panel. J Thromb Haemost3(7):1511-21 2005
PubMed ID: 15978109
 
Fan JB, Sklar P, Meta-analysis reveals association between serotonin transporter gene STin2 VNTR polymorphism and schizophrenia. Mol Psychiatry10(10):928-38 2005
PubMed ID: 15940296
 
Altshuler D, Brooks LD, Chakravarti A, Collins FS, Daly MJ, Donnelly P; International HapMap Consortium, A haplotype map of the human genome. Nature437(7063):1299-320 2005
PubMed ID: 16255080
 
Goldstein DB, Cavalleri GL, Genomics: understanding human diversity. Nature437(7063):1241-2 2005
PubMed ID: 16251937
 
Thorisson GA, Smith AV, Krishnan L, Stein LD, The International HapMap Project Web site. Genome Res15(11):1592-3 2005
PubMed ID: 16251469
 
Clark AG, Hubisz MJ, Bustamante CD, Williamson SH, Nielsen R, Ascertainment bias in studies of human genome-wide polymorphism. Genome Res15(11):1496-502 2005
PubMed ID: 16251459
 
de Bakker PI, Yelensky R, Pe'er I, Gabriel SB, Daly MJ, Altshuler D, Efficiency and power in genetic association studies. Nat Genet37(11):1217-23 2005
PubMed ID: 16244653
 
Ge B, Gurd S, Gaudin T, Dore C, Lepage P, Harmsen E, Hudson TJ, Pastinen T, Survey of allelic expression using EST mining. Genome Res15(11):1584-91 2005
PubMed ID: 16251468
 
Geisen C, Watzka M, Sittinger K, Steffens M, Daugela L, Seifried E, Muller CR, Wienker TF, Oldenburg J, VKORC1 haplotypes and their impact on the inter-individual and inter-ethnical variability of oral anticoagulation. Thromb Haemost94(4):773-9 2005
PubMed ID: 16270629
 
Nielsen R, Williamson S, Kim Y, Hubisz MJ, Clark AG, Bustamante C, Genomic scans for selective sweeps using SNP data. Genome Res15(11):1566-75 2005
PubMed ID: 16251466
 
Smith AV, Thomas DJ, Munro HM, Abecasis GR, Sequence features in regions of weak and strong linkage disequilibrium. Genome Res15(11):1519-34 2005
PubMed ID: 16251462
 
Weir BS, Cardon LR, Anderson AD, Nielsen DM, Hill WG, Measures of human population structure show heterogeneity among genomic regions. Genome Res15(11):1468-76 2005
PubMed ID: 16251456
 
Andrawiss M, First phase of HapMap project already helping drug discovery. Nat Rev Drug Discov4(12):947 2005
PubMed ID: 16370072
 
Graham RR, Kozyrev SV, Baechler EC, Reddy MV, Plenge RM, Bauer JW, Ortmann WA, Koeuth T, González Escribano MF, Argentine and Spanish Collaborative Groups MF, Pons-Estel B, Petri M, Daly M, Gregersen PK, Martín J, Altshuler D, Behrens TW, Alarcón-Riquelme ME, A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus Nature genetics38:550-5 2005
PubMed ID: 16642019
 
Service S, DeYoung J, Karayiorgou M, Roos JL, Pretorious H, Bedoya G, Ospina J, Ruiz-Linares A, Macedo A, Palha JA, Heutink P, Aulchenko Y, Oostra B, van Duijn C, Jarvelin MR, Varilo T, Peddle L, Rahman P, Piras G, Monne M, Murray S, Galver L, Peltonen L, Sabatti C, Collins A, Freimer N, Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studies Nature genetics38:556-60 2005
PubMed ID: 16582909
 
The International HapMap Consortium, Integrating ethics and science in the International HapMap Project. Nat Rev Genet5(6):467-75 2004
PubMed ID: 15153999
 
The International HapMap Consortium, The International HapMap Project. Nature426(6968):789-96 2003
PubMed ID: 14685227
 
Ghosh S, Watanabe RM, Valle TT, Hauser ER, Magnuson VL, Langefeld CD, Ally DS, Mohlke KL, Silander K, Kohtamäki K, Chines P, Balow Jr J, Birznieks G, Chang J, Eldridge W, Erdos MR, Karanjawala ZE, Knapp JI, Kudelko K, Martin C, Morales-Mena A, Musick A, Musick T, Pfahl C, Porter R, Rayman JB, The Finland-United States investigation of non-insulin-dependent diabetes mellitus genetics (FUSION) study I An autosomal genome scan for genes that predispose to type 2 diabetes American journal of human genetics67:1174-85 2000
PubMed ID: 11032783

Catalog IDSexFamilyRelationshipGeneMutation
NA12878Female1463mother  
      
NA12892Female1463maternal grandmother  
      
NA12891Male1463maternal grandfather  
      
NA12873Female1459paternal grandmother  
      
NA12865Female1459mother  
      
NA12875Female1459maternal grandmother  
      
NA12872Male1459paternal grandfather  
      
NA12874Male1459maternal grandfather  
      
NA12864Male1459father  
      
NA12813Female1454paternal grandmother  
      
NA12802Female1454mother  
      
NA12815Female1454maternal grandmother  
      
NA12812Male1454paternal grandfather  
      
NA12814Male1454maternal grandfather  
      
NA12801Male1454father  
      
NA12761Female1447paternal grandmother  
      
NA12753Female1447mother  
      
NA12763Female1447maternal grandmother  
      
NA12760Male1447paternal grandfather  
      
NA12762Male1447maternal grandfather  
      
NA12752Male1447father  
      
NA12740Female1444mother  
      
NA12751Female1444maternal grandmother  
      
NA12750Male1444maternal grandfather  
      
NA12004Female1420paternal grandmother  
      
NA10839Female1420mother  
      
NA12006Female1420maternal grandmother  
      
NA12003Male1420paternal grandfatherCYP2D6IVSDS3, G>A, +1 (Mono), VAL11MET,ARG296CYS,SER486THR (Mono)
     IVSDS3, G>A, +1 (Mono), VAL11MET,ARG296CYS,SER486THR (Mono)
NA12005Male1420maternal grandfather  
      
NA10838Male1420father  
      
NA12249Female1416paternal grandmother  
      
NA12248Male1416paternal grandfather  
      
NA10835Male1416father  
      
NA10831Female1408mother  
      
NA12156Female1408maternal grandmother  
      
NA12154Male1408paternal grandfather  
      
NA12155Male1408maternal grandfather  
      
NA10830Male1408father  
      
NA10863Female1375mother  
      
NA12234Female1375maternal grandmother  
      
NA12264Male1375maternal grandfather  
      
NA11993Female1362paternal grandmother  
      
NA10861Female1362mother  
      
NA11995Female1362maternal grandmother  
      
NA11992Male1362paternal grandfather  
      
NA11994Male1362maternal grandfather  
      
NA10860Male1362father  
      
NA12717Female1358paternal grandmother  
      
NA12716Male1358paternal grandfather  
      
NA12707Male1358father  
      
NA11830Female1350paternal grandmother  
      
NA10855Female1350mother  
      
NA11832Female1350maternal grandmother  
      
NA11829Male1350paternal grandfather  
      
NA11831Male1350maternal grandfather  
      
NA10856Male1350father  
      
NA10854Female1349mother  
      
NA11840Female1349maternal grandmother  
      
NA11839Male1349maternal grandfather  
      
NA10859Female1347mother  
      
NA11882Female1347maternal grandmother  
      
NA11881Male1347maternal grandfather  
      
NA12044Female1346paternal grandmother  
      
NA12043Male1346paternal grandfather  
      
NA10857Male1346father  
      
NA07348Female1345mother  
      
NA07345Female1345maternal grandmother  
      
NA07357Male1345maternal grandfather  
      
NA12057Female1344paternal grandmother  
      
NA12056Male1344paternal grandfather  
      
NA10851Male1344father  
      
NA07055Female1341paternal grandmother  
      
NA06991Female1341mother  
      
NA06985Female1341maternal grandmother  
      
NA07034Male1341paternal grandfather  
      
NA06993Male1341maternal grandfather  
      
NA07048Male1341father  
      
NA07000Female1340paternal grandmother  
      
NA07019Female1340mother  
      
NA07056Female1340maternal grandmother  
      
NA06994Male1340paternal grandfather  
      
NA07022Male1340maternal grandfather  
      
NA07029Male1340father  
      
NA12145Female1334paternal grandmother  
      
NA10847Female1334mother  
      
NA12239Female1334maternal grandmother  
      
NA12144Male1334paternal grandfather  
      
NA12146Male1334maternal grandfather  
      
NA10846Male1334father