{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T09:04:50Z","timestamp":1791363890967,"version":"4.3.1"},"reference-count":48,"publisher":"Elsevier BV","issue":"1-2","license":[{"start":{"date-parts":[[2007,2,1]],"date-time":"2007-02-01T00:00:00Z","timestamp":1170288000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2007,2,1]],"date-time":"2007-02-01T00:00:00Z","timestamp":1170288000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2007,2,1]],"date-time":"2007-02-01T00:00:00Z","timestamp":1170288000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2007,2,1]],"date-time":"2007-02-01T00:00:00Z","timestamp":1170288000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2007,2,1]],"date-time":"2007-02-01T00:00:00Z","timestamp":1170288000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2007,2,1]],"date-time":"2007-02-01T00:00:00Z","timestamp":1170288000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2007,2,1]],"date-time":"2007-02-01T00:00:00Z","timestamp":1170288000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis"],"published-print":{"date-parts":[[2007,2]]},"DOI":"10.1016\/j.mrfmmm.2006.09.003","type":"journal-article","created":{"date-parts":[[2006,11,14]],"date-time":"2006-11-14T07:18:59Z","timestamp":1163488739000},"page":"28-56","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":443,"title":["A strategy to discover genes that carry multi-allelic or mono-allelic risk for common diseases: A cohort allelic sums test (CAST)"],"prefix":"10.1016","volume":"615","author":[{"given":"Stephan","family":"Morgenthaler","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William G.","family":"Thilly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.mrfmmm.2006.09.003_bib1","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1086\/425285","article-title":"The genetics of sun sensitivity in humans","volume":"75","author":"Rees","year":"2004","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.mrfmmm.2006.09.003_bib2","doi-asserted-by":"crossref","first-page":"7227","DOI":"10.1073\/pnas.0501536102","article-title":"A common haplotype in the complement regulatory gene factor H (HF1\/CFH) predisposes individuals to age-related macular degeneration","volume":"102","author":"Hageman","year":"2005","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"10.1016\/j.mrfmmm.2006.09.003_bib3","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1002\/humu.20268","article-title":"An interactive web database of factor H associated hemolytic uremic syndrome mutations: insights into the structural consequences of disease associated mutations","volume":"27","author":"Saunders","year":"2005","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.mrfmmm.2006.09.003_bib4","doi-asserted-by":"crossref","first-page":"e5","DOI":"10.1371\/journal.pmed.0030005","article-title":"CFH Y402H confers similar risk of Soft Drusen and both forms of advanced AMD","volume":"3","author":"Magnusson","year":"2005","journal-title":"PLoS Med."},{"key":"10.1016\/j.mrfmmm.2006.09.003_bib5","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1093\/genetics\/121.1.185","article-title":"Mapping mendelian factors underlying quantitative traits using RFLP linkage maps","volume":"121","author":"Lander","year":"1989","journal-title":"Genetics"},{"key":"10.1016\/j.mrfmmm.2006.09.003_bib6","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1086\/321272","article-title":"Are rare variants responsible for susceptibility to complex diseases?","volume":"69","author":"Pritchard","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.mrfmmm.2006.09.003_bib7","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1093\/genetics\/49.4.725","article-title":"The number of alleles that can be maintained in a finite population","volume":"49","author":"Kimura","year":"1964","journal-title":"Genetics"},{"key":"10.1016\/j.mrfmmm.2006.09.003_bib8","series-title":"The Genetics of Human Populations","author":"Calvari-Sforza","year":"1971"},{"key":"10.1016\/j.mrfmmm.2006.09.003_bib9","series-title":"A Primer of Population Genetics","author":"Hartl","year":"2000"},{"key":"10.1016\/j.mrfmmm.2006.09.003_bib10","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1073\/pnas.44.2.112","article-title":"Induction of specific mutations with 5-bromouracil","volume":"44","author":"Benzer","year":"1958","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"10.1016\/j.mrfmmm.2006.09.003_bib11","doi-asserted-by":"crossref","first-page":"847","DOI":"10.1016\/0022-2836(78)90023-2","article-title":"Genetic studies of the lac repressor. VII. On the molecular nature of spontaneous hotspots in the lacI gene of Escherichia coli","volume":"126","author":"Farabaugh","year":"1978","journal-title":"J. Mol. Biol."},{"key":"10.1016\/j.mrfmmm.2006.09.003_bib12","doi-asserted-by":"crossref","first-page":"13798","DOI":"10.1073\/pnas.94.25.13798","article-title":"Mitochondrial mutational spectra in human cells and tissues","volume":"94","author":"Khrapko","year":"1997","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"10.1016\/j.mrfmmm.2006.09.003_bib13","first-page":"5793","article-title":"The mutational spectrum of the HPRT gene from human T cells in vivo shares a significant concordant set of hot spots with MNNG-treated human cells","volume":"63","author":"Tomita-Mitchell","year":"2003","journal-title":"Cancer Res."},{"key":"10.1016\/j.mrfmmm.2006.09.003_bib14","doi-asserted-by":"crossref","first-page":"1631","DOI":"10.1086\/429832","article-title":"The sickle cell trait is associated with enhanced immunoglobulin G antibody responses to Plasmodium falciparum variant surface antigens","volume":"191","author":"Cabrera","year":"2005","journal-title":"J. Infect. Dis."},{"key":"10.1016\/j.mrfmmm.2006.09.003_bib15","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1038\/30006","article-title":"Salmonella typhi uses CFTR to enter intestinal epithelial cells","volume":"393","author":"Pier","year":"1998","journal-title":"Nature"},{"key":"10.1016\/j.mrfmmm.2006.09.003_bib16","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1016\/S0378-1119(98)00408-9","article-title":"Single nucleotide polymorphism spectra in newborns and centenarians: identification of genes coding for risk of mortal disease","volume":"26","author":"Tomita-Mitchell","year":"1998","journal-title":"Gene"},{"key":"10.1016\/j.mrfmmm.2006.09.003_bib17","doi-asserted-by":"crossref","first-page":"e44","DOI":"10.1093\/nar\/28.9.e44","article-title":"A sensitive scanning technology for low frequency nuclear point mutations in human genomic DNA","volume":"28","author":"Li-Sucholeiki","year":"2000","journal-title":"Nucl. Acids Res."},{"key":"10.1016\/j.mrfmmm.2006.09.003_bib18","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1097\/00125817-200203000-00002","article-title":"A comprehensive review of genetic association studies","volume":"4","author":"Hirschhorn","year":"2002","journal-title":"Genet Med."},{"key":"10.1016\/j.mrfmmm.2006.09.003_bib19","first-page":"54","article-title":"Genetic association studies of complex traits: design and analysis issues","volume":"3","author":"Newton-Cheh","year":"2005","journal-title":"Mutat. Res."},{"key":"10.1016\/j.mrfmmm.2006.09.003_bib20","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1038\/nrg1521","article-title":"Genome-wide association studies for common diseases and complex traits","volume":"6","author":"Hirschhorn","year":"2005","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.mrfmmm.2006.09.003_bib21","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1016\/j.mrfmmm.2004.11.004","article-title":"Detection and frequency estimation of rare variants in pools of genomic DNA from large populations using mutational spectrometry","volume":"570","author":"Li-Sucholeiki","year":"2005","journal-title":"Mutat. Res."},{"key":"10.1016\/j.mrfmmm.2006.09.003_bib22","doi-asserted-by":"crossref","first-page":"14717","DOI":"10.1073\/pnas.0506677102","article-title":"Multiplexed variation scanning for 1,000 amplicons in hundreds of patients using mismatch repair detection (MRD) on tag arrays","volume":"102","author":"Faham","year":"2005","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"10.1016\/j.mrfmmm.2006.09.003_bib23","doi-asserted-by":"crossref","first-page":"747","DOI":"10.1016\/S0960-9822(99)80334-0","article-title":"Do essential genes evolve slowly?","volume":"9","author":"Hurst","year":"1999","journal-title":"Curr. Biol."},{"key":"10.1016\/j.mrfmmm.2006.09.003_bib24","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1016\/S0027-5107(00)00108-1","article-title":"Ionizing radiation and genetic risks. XI. The doubling dose estimates from the mid-1950s to the present and the conceptual change to the use of human data on spontaneous mutation rates and mouse data on induced mutation rates for doubling dose calculations","volume":"453","author":"Sankaranarayanan","year":"2000","journal-title":"Mut. Res."},{"issue":"Suppl. 2","key":"10.1016\/j.mrfmmm.2006.09.003_bib25","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1046\/j.1365-2362.33.s2.3.x","article-title":"Pharmacogenetics of cytochrome p4502D6: genetic background and clinical implication","volume":"33","author":"Cascorbi","year":"2003","journal-title":"Eur. J. Clin. Invest."},{"key":"10.1016\/j.mrfmmm.2006.09.003_bib26","first-page":"231","article-title":"The glutathione S-transferases: influence of polymorphism on cancer susceptibility","volume":"148","author":"Strange","year":"1999","journal-title":"IARC Sci. Publ."},{"key":"10.1016\/j.mrfmmm.2006.09.003_bib27","doi-asserted-by":"crossref","first-page":"1728","DOI":"10.1126\/science.1117389","article-title":"Accurate multiplex polony sequencing of an evolved bacterial genome","volume":"309","author":"Shendure","year":"2005","journal-title":"Science"},{"key":"10.1016\/j.mrfmmm.2006.09.003_bib28","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1038\/nature03959","article-title":"Genome sequencing in microfabricated high-density picolitre reactors","volume":"437","author":"Margulies","year":"2005","journal-title":"Nature"},{"key":"10.1016\/j.mrfmmm.2006.09.003_bib29","series-title":"Cooperative Equilibria in Physical Biochemistry","author":"Poland","year":"1978"},{"key":"10.1016\/j.mrfmmm.2006.09.003_bib30","doi-asserted-by":"crossref","first-page":"1579","DOI":"10.1073\/pnas.80.6.1579","article-title":"DNA fragments differing by single base-pair substitutions are separated in denaturing gradient gels: correspondence with melting theory","volume":"80","author":"Fischer","year":"1983","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"10.1016\/j.mrfmmm.2006.09.003_bib31","doi-asserted-by":"crossref","first-page":"2531","DOI":"10.1002\/elps.200410431","article-title":"Scanning the B-globin gene for mutations in large populations by denaturing capillary and gel electrophoresis","volume":"26","author":"Li-Sucholeiki","year":"2005","journal-title":"Electrophoresis"},{"key":"10.1016\/j.mrfmmm.2006.09.003_bib32","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1177\/1087057102238623","article-title":"Population screening of single-nucleotide polymorphisms exemplified by analysis of 8000 alleles","volume":"7","author":"Ekstrom","year":"2002","journal-title":"J. Biomol. Screen."},{"key":"10.1016\/j.mrfmmm.2006.09.003_bib33","doi-asserted-by":"crossref","first-page":"1716","DOI":"10.1002\/elps.200305384","article-title":"Cycling gradient capillary electrophoresis: a low-cost tool for high-throughput analysis of genetic variations","volume":"24","author":"Minarik","year":"2003","journal-title":"Electrophoresis"},{"key":"10.1016\/j.mrfmmm.2006.09.003_bib34","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1002\/elps.200390032","article-title":"Direct identification of all oncogenic mutnts in KRAS exon 1 by cycling temperature capillary electrophoresis","volume":"24","author":"Bjorheim","year":"2003","journal-title":"Electrophoresis"},{"key":"10.1016\/j.mrfmmm.2006.09.003_bib35","doi-asserted-by":"crossref","first-page":"2085","DOI":"10.1126\/science.7522346","article-title":"Padlock probes: circularizing oligonucleotides for localized DNA detection","volume":"265","author":"Nilsson","year":"1994","journal-title":"Science"},{"issue":"6","key":"10.1016\/j.mrfmmm.2006.09.003_bib36","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1038\/nbt821","article-title":"Multiplexed genotyping with sequence-tagged molecular inversion probes","volume":"21","author":"Hardenbol","year":"2003","journal-title":"Nat. Biotechnol."},{"key":"10.1016\/j.mrfmmm.2006.09.003_bib37","doi-asserted-by":"crossref","first-page":"1304","DOI":"10.1126\/science.1058040","article-title":"The sequence of the human genome","volume":"291","author":"Venter","year":"2001","journal-title":"Science"},{"key":"10.1016\/j.mrfmmm.2006.09.003_bib38","doi-asserted-by":"crossref","first-page":"5738","DOI":"10.1093\/nar\/26.24.5738","article-title":"Identification of point mutations in mixtures by capillary electrophoresis hybridization","volume":"26","author":"Khrapko","year":"1998","journal-title":"Nucl. Acids Res."},{"key":"10.1016\/j.mrfmmm.2006.09.003_bib39","doi-asserted-by":"crossref","first-page":"9253","DOI":"10.1073\/pnas.86.23.9253","article-title":"Fidelity of DNA polymerases in DNA amplification","volume":"86","author":"Keohavong","year":"1989","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"10.1016\/j.mrfmmm.2006.09.003_bib40","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1111\/j.2517-6161.1995.tb02031.x","article-title":"Controlling the false discovery rate: a practical and powerful approach to multiple testing","volume":"57","author":"Benjamini","year":"1995","journal-title":"J. R. Stat. Soc., Series B"},{"key":"10.1016\/j.mrfmmm.2006.09.003_bib41","doi-asserted-by":"crossref","first-page":"e162","DOI":"10.1371\/journal.pbio.0020162","article-title":"Integrative annotation of 21,037 human genes validated by full-length cDNA clones","volume":"2","author":"Imanishi","year":"2004","journal-title":"PLoS Biol."},{"key":"10.1016\/j.mrfmmm.2006.09.003_bib42","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1186\/1479-7364-1-1-52","article-title":"Measuring and using admixture to study the genetics of complex diseases","volume":"1","author":"Halder","year":"2003","journal-title":"Hum. Genom."},{"key":"10.1016\/j.mrfmmm.2006.09.003_bib43","doi-asserted-by":"crossref","first-page":"1072","DOI":"10.1126\/science.1105436","article-title":"Whole-genome patterns of common DNA variation in three human populations","volume":"307","author":"Hinds","year":"2005","journal-title":"Science"},{"key":"10.1016\/j.mrfmmm.2006.09.003_bib44","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1056\/NEJM200007133430201","article-title":"Environmental and heritable factors in the causation of cancer-analyses of population samples of twins from Sweden, Denmark, and Finland","volume":"13","author":"Lichtenstein","year":"2000","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.mrfmmm.2006.09.003_bib45","doi-asserted-by":"crossref","first-page":"e183","DOI":"10.1093\/nar\/gni177","article-title":"Allele quantification using molecular inversion probes (MIP)","volume":"33","author":"Wang","year":"2005","journal-title":"Nucl. Acids Res."},{"key":"10.1016\/j.mrfmmm.2006.09.003_bib46","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1016\/0040-5809(72)90035-4","article-title":"The sampling theory of selectively neutral alleles","volume":"3","author":"Ewens","year":"1972","journal-title":"Theor. Popul. Biol."},{"key":"10.1016\/j.mrfmmm.2006.09.003_bib47","doi-asserted-by":"crossref","first-page":"2417","DOI":"10.1093\/hmg\/11.20.2417","article-title":"The allelic architecture of human disease genes: common disease-common variant \u2026 or not?","volume":"11","author":"Pritchard","year":"2002","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.mrfmmm.2006.09.003_bib48","first-page":"733","article-title":"Stratigraphic placement and age of modern humans from Kibish","volume":"433","author":"McDougall","year":"2005","journal-title":"Ethiop. Nat."}],"container-title":["Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0027510706002740?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0027510706002740?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,12,2]],"date-time":"2025-12-02T05:42:26Z","timestamp":1764654146000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0027510706002740"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,2]]},"references-count":48,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[2007,2]]}},"alternative-id":["S0027510706002740"],"URL":"https:\/\/doi.org\/10.1016\/j.mrfmmm.2006.09.003","relation":{},"ISSN":["1386-1964"],"issn-type":[{"value":"1386-1964","type":"print"}],"subject":[],"published":{"date-parts":[[2007,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A strategy to discover genes that carry multi-allelic or mono-allelic risk for common diseases: A cohort allelic sums test (CAST)","name":"articletitle","label":"Article Title"},{"value":"Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.mrfmmm.2006.09.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2006 Elsevier B.V. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}]}}