{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T10:52:52Z","timestamp":1740135172161,"version":"3.37.3"},"reference-count":27,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2018,1,5]],"date-time":"2018-01-05T00:00:00Z","timestamp":1515110400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2018,1,5]],"date-time":"2018-01-05T00:00:00Z","timestamp":1515110400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81373098"],"award-info":[{"award-number":["81373098"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81573207"],"award-info":[{"award-number":["81573207"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Science and Technology Planning Project of Guangdong Province, China","award":["2013B021800038"],"award-info":[{"award-number":["2013B021800038"]}]},{"name":"The Hong Kong Research Grants Council GRF Grant","award":["17301715"],"award-info":[{"award-number":["17301715"]}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01 GM031575"],"award-info":[{"award-number":["R01 GM031575"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["N01-AR-2-2263"],"award-info":[{"award-number":["N01-AR-2-2263"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01-AR-44422"],"award-info":[{"award-number":["R01-AR-44422"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"name":"The National Arthritis Foundation"},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81773544"],"award-info":[{"award-number":["81773544"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Bioinformatics"],"published-print":{"date-parts":[[2018,12]]},"DOI":"10.1186\/s12859-017-2001-5","type":"journal-article","created":{"date-parts":[[2018,1,5]],"date-time":"2018-01-05T12:58:03Z","timestamp":1515157083000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A powerful parent-of-origin effects test for qualitative traits on X chromosome in general pedigrees"],"prefix":"10.1186","volume":"19","author":[{"given":"Qi-Lei","family":"Zou","sequence":"first","affiliation":[]},{"given":"Xiao-Ping","family":"You","sequence":"additional","affiliation":[]},{"given":"Jian-Long","family":"Li","sequence":"additional","affiliation":[]},{"given":"Wing Kam","family":"Fung","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0866-4402","authenticated-orcid":false,"given":"Ji-Yuan","family":"Zhou","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2018,1,5]]},"reference":[{"key":"2001_CR1","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1038\/35047554","volume":"2","author":"W Reik","year":"2001","unstructured":"Reik W, Walter J. Genomic imprinting: parental influence on the genome. Nat Rev Genet. 2001; 2:21\u201332.","journal-title":"Nat Rev Genet"},{"key":"2001_CR2","doi-asserted-by":"publisher","first-page":"635","DOI":"10.1016\/S0002-9440(10)65309-6","volume":"154","author":"JG Falls","year":"1999","unstructured":"Falls JG, Pulford DJ, Wylie AA, Jirtle RL. Genomic imprinting: implications for human disease. Am J Pathol. 1999; 154:635\u201347.","journal-title":"Am J Pathol"},{"key":"2001_CR3","volume-title":"A Statistical Approach to Genetic Epidemiology: Concepts and Applications","author":"A Ziegler","year":"2006","unstructured":"Ziegler A, K\u00f6nig IR, Pahlke F. A Statistical Approach to Genetic Epidemiology: Concepts and Applications, 1st ed. Weinheim: Wiley-VCH; 2006."},{"key":"2001_CR4","doi-asserted-by":"publisher","first-page":"508","DOI":"10.1002\/ajmg.1320440426","volume":"44","author":"S Chatkupt","year":"1992","unstructured":"Chatkupt S, Lucek PR, Koenigsberger MR, Johnson WG. Parental sex effect in spina bifida: a role for genomic imprinting?Am J Med Genet. 1992; 44:508\u201312.","journal-title":"Am J Med Genet"},{"key":"2001_CR5","doi-asserted-by":"publisher","first-page":"705","DOI":"10.1038\/42706","volume":"387","author":"DH Skuse","year":"1997","unstructured":"Skuse DH, James RS, Bishop DVM, Coppin B, Dalton P, Aamodt-Leeper G, et al.Evidence from Turner\u2019s syndrome of an imprinted X-linked locus affecting cognitive function. Nature. 1997; 387:705\u20138.","journal-title":"Nature"},{"key":"2001_CR6","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1203\/00006450-200001000-00006","volume":"47","author":"DH Skuse","year":"2000","unstructured":"Skuse DH. Imprinting, the X-chromosome, and the male brain: explaining sex differences in the liability to autism. Pediatr Res. 2000; 47:9.","journal-title":"Pediatr Res"},{"key":"2001_CR7","doi-asserted-by":"publisher","first-page":"2571","DOI":"10.1093\/bioinformatics\/btr443","volume":"27","author":"F Xia","year":"2011","unstructured":"Xia F, Zhou JY, Fung WK. A powerful approach for association analysis incorporating imprinting effects. Bioinformatics. 2011; 27:2571\u20137.","journal-title":"Bioinformatics"},{"key":"2001_CR8","doi-asserted-by":"publisher","first-page":"1755","DOI":"10.1534\/genetics.107.080697","volume":"178","author":"R Hager","year":"2008","unstructured":"Hager R, Cheverud JM, Wolf JB. Maternal effects as the cause of parent-of-origin effects that mimic genomic imprinting. Genetics. 2008; 178:1755\u201362.","journal-title":"Genetics"},{"key":"2001_CR9","doi-asserted-by":"publisher","first-page":"229","DOI":"10.1086\/302466","volume":"65","author":"CR Weinberg","year":"1999","unstructured":"Weinberg CR. Methods for detection of parent-of-origin effects in genetic studies of case-parents triads. Am J Hum Genet. 1999; 65:229\u201335.","journal-title":"Am J Hum Genet"},{"key":"2001_CR10","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1159\/000164394","volume":"67","author":"JY Zhou","year":"2009","unstructured":"Zhou JY, Hu YQ, Lin S, Fung WK. Detection of parent-of-origin effects based on complete and incomplete nuclear families with multiple affected children. Hum Hered. 2009; 67:1\u201312.","journal-title":"Hum Hered"},{"key":"2001_CR11","doi-asserted-by":"publisher","first-page":"226","DOI":"10.1093\/aje\/kwr056","volume":"174","author":"F He","year":"2011","unstructured":"He F, Zhou JY, Hu YQ, Sun F, Yang J, Lin S, et al.Detection of parent-of-origin effects for quantitative traits in complete and incomplete nuclear families with multiple children. Am J Epidemiol. 2011; 174:226\u201333.","journal-title":"Am J Epidemiol"},{"key":"2001_CR12","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1002\/gepi.20445","volume":"34","author":"JY Zhou","year":"2010","unstructured":"Zhou JY, Ding J, Fung WK, Lin S. Detection of parent-of-origin effects using general pedigree data. Genet Epidemiol. 2010; 34:151\u20138.","journal-title":"Genet Epidemiol"},{"key":"2001_CR13","doi-asserted-by":"publisher","first-page":"339","DOI":"10.1007\/s12041-014-0379-7","volume":"93","author":"HQ He","year":"2014","unstructured":"He HQ, Mao WG, Pan D, Zhou JY, Chen PY, Fung WK. Detection of parent-of-origin effects for quantitative traits using general pedigree data. J Genet. 2014; 93:339\u201347.","journal-title":"J Genet"},{"key":"2001_CR14","doi-asserted-by":"crossref","unstructured":"Zhou JY, You XP, Yang R, Fung WK. Detection of imprinting effects for qualitative traits on X chromosome based on nuclear families. Stat Methods Med Res. 2016. \n                    https:\/\/doi.org\/10.1177\/0962280216680243\n                    \n                  .","DOI":"10.1177\/0962280216680243"},{"key":"2001_CR15","doi-asserted-by":"publisher","first-page":"147","DOI":"10.1111\/ahg.12195","volume":"81","author":"K Yu","year":"2017","unstructured":"Yu K, Zhou JY, Fung WK. Detection of imprinting effects for quantitative traits on X chromosome using nuclear families with multiple daughters. Ann Hum Genet. 2017; 81:147\u201360.","journal-title":"Ann Hum Genet"},{"key":"2001_CR16","doi-asserted-by":"publisher","first-page":"567","DOI":"10.1086\/507609","volume":"79","author":"J Ding","year":"2006","unstructured":"Ding J, Lin S, Liu Y. Monte Carlo pedigree disequilibrium test for markers on the X chromosome. Am J Hum Genet. 2006; 79:567\u201373.","journal-title":"Am J Hum Genet"},{"key":"2001_CR17","first-page":"A204","volume":"47","author":"J Ott","year":"1990","unstructured":"Ott J, Lathrop GM. SLINK: a general simulation program for linkage analysis. Am J Hum Genet. 1990; 47:A204.","journal-title":"Am J Hum Genet"},{"key":"2001_CR18","doi-asserted-by":"publisher","first-page":"S1","DOI":"10.1002\/gepi.20274","volume":"31 Suppl 1","author":"JS Witte","year":"2007","unstructured":"Witte JS, Schnell AH, Cordell HJ, Spielman RS, Amos CI, Miller MB, et al.Introduction to genetic analysis workshop 15 summaries. Genet Epidemiol. 2007; 31 Suppl 1:S1\u2013S6.","journal-title":"Genet Epidemiol"},{"key":"2001_CR19","doi-asserted-by":"publisher","first-page":"1336","DOI":"10.1038\/ng.2462","volume":"44","author":"S Eyre","year":"2012","unstructured":"Eyre S, Bowes J, Diogo D, Lee A, Barton A, Martin P, et al.High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis. Nat Genet. 2012; 44:1336\u201340.","journal-title":"Nat Genet"},{"key":"2001_CR20","doi-asserted-by":"publisher","first-page":"156","DOI":"10.1038\/hdy.2014.18","volume":"113","author":"X Wang","year":"2014","unstructured":"Wang X, Clark AG. Using next-generation RNA sequencing to identify imprinted genes. Heredity. 2014; 113:156\u201366.","journal-title":"Heredity"},{"key":"2001_CR21","doi-asserted-by":"publisher","first-page":"372","DOI":"10.1038\/190372a0","volume":"190","author":"MF Lyon","year":"1961","unstructured":"Lyon MF. Gene action in the X-chromosome of the mouse (Mus musculus L). Nature. 1961; 190:372\u20133.","journal-title":"Nature"},{"key":"2001_CR22","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1146\/annurev.genom.6.080604.162350","volume":"6","author":"JC Chow","year":"2005","unstructured":"Chow JC, Yen Z, Ziesche SM, Brown CJ. Silencing of the mammalian X chromosome. Annu Rev Genomics Hum Genet. 2005; 6:69\u201392.","journal-title":"Annu Rev Genomics Hum Genet"},{"key":"2001_CR23","doi-asserted-by":"publisher","first-page":"493","DOI":"10.1086\/507565","volume":"79","author":"JM Amos-Landgraf","year":"2006","unstructured":"Amos-Landgraf JM, Cottle A, Plenge RM, Friez M, Schwartz CE, Longshore J, et al.X chromosome\u2013inactivation patterns of 1,005 phenotypically unaffected females. Am J Hum Genet. 2006; 79:493\u20139.","journal-title":"Am J Hum Genet"},{"key":"2001_CR24","doi-asserted-by":"publisher","first-page":"20","DOI":"10.1172\/JCI34470","volume":"118","author":"J Minks","year":"2008","unstructured":"Minks J, Robinson WP, Brown CJ. A skewed view of X chromosome inactivation. J Clin Invest. 2008; 118:20\u20133.","journal-title":"J Clin Invest"},{"key":"2001_CR25","doi-asserted-by":"publisher","first-page":"R106","DOI":"10.1186\/ar2759","volume":"11","author":"G Chabchoub","year":"2009","unstructured":"Chabchoub G, Uz E, Maalej A, Mustafa CA, Rebai A, Mnif M, et al.Analysis of skewed X-chromosome inactivation in females with rheumatoid arthritis and autoimmune thyroid diseases. Arthritis Res Ther. 2009; 11:R106.","journal-title":"Arthritis Res Ther"},{"key":"2001_CR26","doi-asserted-by":"publisher","first-page":"1396","DOI":"10.1038\/ejhg.2013.84","volume":"21","author":"NKE Renault","year":"2013","unstructured":"Renault NKE, Pritchett SM, Howell RE, Greer WL, Sapienza C, \u00d8rstavik KH, et al.Human X-chromosome inactivation pattern distributions fit a model of genetically influenced choice better than models of completely random choice. Eur J Hum Genet. 2013; 21:1396\u2013402.","journal-title":"Eur J Hum Genet"},{"key":"2001_CR27","doi-asserted-by":"publisher","first-page":"576","DOI":"10.1186\/s12864-015-1721-z","volume":"16","author":"Y Hu","year":"2015","unstructured":"Hu Y, Rosa GJ, Gianola D. A GWAS assessment of the contribution of genomic imprinting to the variation of body mass index in mice. BMC Genomics. 2015; 16:576.","journal-title":"BMC Genomics"}],"container-title":["BMC Bioinformatics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12859-017-2001-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/s12859-017-2001-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12859-017-2001-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,5,14]],"date-time":"2020-05-14T11:01:29Z","timestamp":1589454089000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcbioinformatics.biomedcentral.com\/articles\/10.1186\/s12859-017-2001-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,1,5]]},"references-count":27,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2018,12]]}},"alternative-id":["2001"],"URL":"https:\/\/doi.org\/10.1186\/s12859-017-2001-5","relation":{},"ISSN":["1471-2105"],"issn-type":[{"type":"electronic","value":"1471-2105"}],"subject":[],"published":{"date-parts":[[2018,1,5]]},"assertion":[{"value":"7 December 2016","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 December 2017","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"5 January 2018","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Not applicable.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Publisher\u2019s Note"}}],"article-number":"8"}}