{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T17:48:53Z","timestamp":1790790533662,"version":"4.1.0"},"reference-count":45,"publisher":"Springer Science and Business Media LLC","issue":"7","license":[{"start":{"date-parts":[[2019,5,30]],"date-time":"2019-05-30T00:00:00Z","timestamp":1559174400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2019,5,30]],"date-time":"2019-05-30T00:00:00Z","timestamp":1559174400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Sci. China Life Sci."],"published-print":{"date-parts":[[2019,7]]},"DOI":"10.1007\/s11427-019-9541-0","type":"journal-article","created":{"date-parts":[[2019,6,1]],"date-time":"2019-06-01T06:14:27Z","timestamp":1559369667000},"page":"886-894","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Genetic testing and PGD for unexplained recurrent fetal malformations with MAGEL2 gene mutation"],"prefix":"10.1007","volume":"62","author":[{"given":"Wei","family":"Guo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanli","family":"Nie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhiqiang","family":"Yan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaohui","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuqian","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuo","family":"Guan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Kuo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenxin","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xu","family":"Zhi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuan","family":"Wei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liying","family":"Yan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jie","family":"Qiao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2019,5,30]]},"reference":[{"key":"9541_CR1","doi-asserted-by":"publisher","first-page":"759","DOI":"10.1038\/gim.2012.74","volume":"8","author":"ACMG Board of Directors","year":"2012","unstructured":"ACMG Board of Directors. (2012). Points to consider in the clinical application of genomic sequencing. Genet Med 8, 759\u2013761.","journal-title":"Genet Med"},{"key":"9541_CR2","doi-asserted-by":"publisher","first-page":"2713","DOI":"10.1093\/hmg\/ddm225","volume":"16","author":"JM Bischof","year":"2007","unstructured":"Bischof, J.M., Stewart, C.L., and Wevrick, R. (2007). Inactivation of the mouse Magel2 gene results in growth abnormalities similar to Prader-Willi syndrome. Hum Mol Genet 16, 2713\u20132719.","journal-title":"Hum Mol Genet"},{"key":"9541_CR3","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1080\/14772000.2015.1099575","volume":"14","author":"C Bleidorn","year":"2016","unstructured":"Bleidorn, C. (2016). Third generation sequencing: technology and its potential impact on evolutionary biodiversity research. Systemat Biodivers 14, 1\u20138.","journal-title":"Systemat Biodivers"},{"key":"9541_CR4","doi-asserted-by":"publisher","first-page":"695","DOI":"10.1016\/j.ajhg.2017.04.003","volume":"100","author":"KM Boycott","year":"2017","unstructured":"Boycott, K.M., Rath, A., Chong, J.X., Hartley, T., Alkuraya, F.S., Baynam, G., Brookes, A.J., Brudno, M., Carracedo, A., den Dunnen, J.T., et al. (2017). International cooperation to enable the diagnosis of all rare genetic diseases. Am J Hum Genet 100, 695\u2013705.","journal-title":"Am J Hum Genet"},{"key":"9541_CR5","doi-asserted-by":"publisher","first-page":"109","DOI":"10.1016\/j.ygeno.2016.06.003","volume":"108","author":"TL Brown","year":"2016","unstructured":"Brown, T.L., and Meloche, T.M. (2016). Exome sequencing a review of new strategies for rare genomic disease research. Genomics 108, 109\u2013114.","journal-title":"Genomics"},{"key":"9541_CR6","doi-asserted-by":"publisher","first-page":"1153","DOI":"10.1038\/ejhg.2014.66","volume":"22","author":"K Buiting","year":"2014","unstructured":"Buiting, K., Cassidy, S.B., Driscoll, D.J., Gillessen-Kaesbach, G., Kanber, D., Tauber, M., Schwinger, E., and Horsthemke, B. (2014). Clinical utility gene card for: Prader-Willi Syndrome. Eur J Hum Genet 22, 1153.","journal-title":"Eur J Hum Genet"},{"key":"9541_CR7","doi-asserted-by":"publisher","first-page":"4606","DOI":"10.1093\/hmg\/ddx342","volume":"26","author":"LC Burnett","year":"2017","unstructured":"Burnett, L.C., Hubner, G., LeDuc, C.A., Morabito, M.V., Carli, J.F.M., and Leibel, R.L. (2017). Loss of the imprinted, non-coding Snord116 gene cluster in the interval deleted in the Prader Willi syndrome results in murine neuronal and endocrine pancreatic developmental phenotypes. Hum Mol Genet 26, 4606\u20134616.","journal-title":"Hum Mol Genet"},{"key":"9541_CR8","doi-asserted-by":"publisher","first-page":"3269","DOI":"10.1093\/hmg\/ddu038","volume":"23","author":"KJ Carss","year":"2014","unstructured":"Carss, K.J., Hillman, S.C., Parthiban, V., McMullan, D.J., Maher, E.R., Kilby, M.D., and Hurles, M.E. (2014). Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound. Hum Mol Genet 23, 3269\u20133277.","journal-title":"Hum Mol Genet"},{"key":"9541_CR9","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1038\/gim.0b013e31822bead0","volume":"14","author":"SB Cassidy","year":"2012","unstructured":"Cassidy, S.B., Schwartz, S., Miller, J.L., and Driscoll, D.J. (2012). Prader-Willi syndrome. Genet Med 14, 10\u201326.","journal-title":"Genet Med"},{"key":"9541_CR10","doi-asserted-by":"publisher","first-page":"e0120889","DOI":"10.1371\/journal.pone.0120889","volume":"10","author":"AR Chapman","year":"2015","unstructured":"Chapman, A.R., He, Z., Lu, S., Yong, J., Tan, L., Tang, F., and Xie, X.S. (2015). Single cell transcriptome amplification with MALBAC. PLoS ONE 10, e0120889.","journal-title":"PLoS ONE"},{"key":"9541_CR11","doi-asserted-by":"publisher","first-page":"1008","DOI":"10.1186\/s12889-018-5947-y","volume":"18","author":"J Chen","year":"2018","unstructured":"Chen, J., Huang, X., Wang, B., Zhang, Y., Rongkavilit, C., Zeng, D., Jiang, Y., Wei, B., Sanjay, C., and McGrath, E. (2018). Epidemiology of birth defects based on surveillance data from 2011\u20132015 in Guangxi, China: comparison across five major ethnic groups. BMC Public Health 18, 1008.","journal-title":"BMC Public Health"},{"key":"9541_CR12","doi-asserted-by":"publisher","first-page":"585","DOI":"10.1097\/01.ogx.0000525896.44669.e5","volume":"72","author":"ML Feldkamp","year":"2017","unstructured":"Feldkamp, M.L., Carey, J.C., Byrne, J.L.B., Krikov, S., and Botto, L.D. (2017). Etiology and clinical presentation of birth defects. Obstet Gynecol Surv 72, 585\u2013586.","journal-title":"Obstet Gynecol Surv"},{"key":"9541_CR13","doi-asserted-by":"publisher","first-page":"2","DOI":"10.3390\/diseases4010002","volume":"4","author":"MD Fountain","year":"2016","unstructured":"Fountain, M.D., and Schaaf, C.P. (2016). Prader-Willi syndrome and Schaaf-Yang syndrome: neurodevelopmental diseases intersecting at the MAGEL2 gene. Diseases 4, 2.","journal-title":"Diseases"},{"key":"9541_CR14","doi-asserted-by":"publisher","first-page":"45","DOI":"10.1038\/gim.2016.53","volume":"19","author":"MD Fountain","year":"2017","unstructured":"Fountain, M.D., Aten, E., Cho, M.T., Juusola, J., Walkiewicz, M.A., Ray, J. W., Xia, F., Yang, Y., Graham, B.H., Bacino, C.A., et al. (2017). The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families. Genet Med 19, 45\u201352.","journal-title":"Genet Med"},{"key":"9541_CR15","doi-asserted-by":"publisher","first-page":"214","DOI":"10.5808\/GI.2012.10.4.214","volume":"10","author":"G Goh","year":"2012","unstructured":"Goh, G., and Choi, M. (2012). Application of whole exome sequencing to identify disease-causing variants in inherited human diseases. Genomics Inform 10, 214\u2013219.","journal-title":"Genomics Inform"},{"key":"9541_CR16","doi-asserted-by":"publisher","first-page":"565","DOI":"10.1038\/gim.2013.73","volume":"15","author":"RC Green","year":"2013","unstructured":"Green, R.C., Berg, J.S., Grody, W.W., Kalia, S.S., Korf, B.R., Martin, C.L., McGuire, A.L., Nussbaum, R.L., O\u2019Daniel, J.M., Ormond, K.E., et al. (2013). ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med 15, 565\u2013574.","journal-title":"Genet Med"},{"key":"9541_CR17","doi-asserted-by":"publisher","first-page":"517","DOI":"10.1016\/j.jgg.2018.08.004","volume":"45","author":"W Guo","year":"2018","unstructured":"Guo, W., Zhu, X., Yan, L., and Qiao, J. (2018). The present and future of whole-exome sequencing in studying and treating human reproductive disorders. J Genet Genomics 45, 517\u2013525.","journal-title":"J Genet Genomics"},{"key":"9541_CR18","doi-asserted-by":"publisher","first-page":"1813","DOI":"10.1093\/hmg\/9.12.1813","volume":"9","author":"S Lee","year":"2000","unstructured":"Lee, S., Kozlov, S., Hernandez, L., Chamberlain, S.J., Brannan, C.I., Stewart, C.L., and Wevrick, R. (2000). Expression and imprinting of MAGEL2 suggest a role in Prader-willi syndrome and the homologous murine imprinting phenotype. Hum Mol Genet 9, 1813\u20131819.","journal-title":"Hum Mol Genet"},{"key":"9541_CR19","doi-asserted-by":"publisher","first-page":"1665","DOI":"10.1093\/ndt\/gfx031","volume":"32","author":"TY Lei","year":"2017","unstructured":"Lei, T.Y., Fu, F., Li, R., Wang, D., Wang, R.Y., Jing, X.Y., Deng, Q., Li, Z. Z., Liu, Z.Q., Yang, X., et al. (2017). Whole-exome sequencing for prenatal diagnosis of fetuses with congenital anomalies of the kidney and urinary tract. Nephrol Dialys Transplant 32, 1665\u20131675.","journal-title":"Nephrol Dialys Transplant"},{"key":"9541_CR20","doi-asserted-by":"publisher","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","volume":"25","author":"H Li","year":"2009","unstructured":"Li, H., and Durbin, R. (2009). Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25, 1754\u20131760.","journal-title":"Bioinformatics"},{"key":"9541_CR21","doi-asserted-by":"publisher","first-page":"3200","DOI":"10.1093\/hmg\/ddu030","volume":"23","author":"HC Martin","year":"2014","unstructured":"Martin, H.C., Kim, G.E., Pagnamenta, A.T., Murakami, Y., Carvill, G.L., Meyer, E., Copley, R.R., Rimmer, A., Barcia, G., Fleming, M.R., et al. (2014). Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis. Hum Mol Genet 23, 3200\u20133211.","journal-title":"Hum Mol Genet"},{"key":"9541_CR22","doi-asserted-by":"publisher","first-page":"e27228","DOI":"10.4161\/rdis.27228","volume":"1","author":"V Matarazzo","year":"2013","unstructured":"Matarazzo, V., and Muscatelli, F. (2013). Natural breaking of the maternal silence at the mouse and human imprinted Prader-Willi locus. Rare Dis 1, e27228.","journal-title":"Rare Dis"},{"key":"9541_CR23","doi-asserted-by":"publisher","first-page":"1297","DOI":"10.1101\/gr.107524.110","volume":"20","author":"A McKenna","year":"2010","unstructured":"McKenna, A., Hanna, M., Banks, E., Sivachenko, A., Cibulskis, K., Kernytsky, A., Garimella, K., Altshuler, D., Gabriel, S., Daly, M., et al. (2010). The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 20, 1297\u20131303.","journal-title":"Genome Res"},{"key":"9541_CR24","doi-asserted-by":"publisher","first-page":"616","DOI":"10.1016\/j.ajhg.2015.08.010","volume":"97","author":"D Mejlachowicz","year":"2015","unstructured":"Mejlachowicz, D., Nolent, F., Maluenda, J., Ranjatoelina-Randrianaivo, H., Giuliano, F., Gut, I., Sternberg, D., Laquerri\u00e8re, A., and Melki, J. (2015). Truncating mutations of MAGEL2, a gene within the Prader-Willi locus, are responsible for severe arthrogryposis. Am J Hum Genet 97, 616\u2013620.","journal-title":"Am J Hum Genet"},{"key":"9541_CR25","doi-asserted-by":"publisher","first-page":"1791","DOI":"10.1002\/ajmg.a.37670","volume":"170","author":"F Millan","year":"2016","unstructured":"Millan, F., Cho, M.T., Retterer, K., Monaghan, K.G., Bai, R., Vitazka, P., Everman, D.B., Smith, B., Angle, B., Roberts, V., et al. (2016). Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder. Am J Med Genet 170, 1791\u20131798.","journal-title":"Am J Med Genet"},{"key":"9541_CR26","doi-asserted-by":"publisher","first-page":"215","DOI":"10.1111\/j.1753-4887.2001.tb07013.x","volume":"59","author":"S Moyers","year":"2009","unstructured":"Moyers, S., and Bailey, L.B. (2009). Fetal malformations and folate metabolism: Review of recent evidence. Nutrition Rev 59, 215\u2013224.","journal-title":"Nutrition Rev"},{"key":"9541_CR27","doi-asserted-by":"publisher","first-page":"e1955","DOI":"10.7717\/peerj.1955","volume":"4","author":"C Pangalos","year":"2016","unstructured":"Pangalos, C., Hagnefelt, B., Lilakos, K., and Konialis, C. (2016). First applications of a targeted exome sequencing approach in fetuses with ultrasound abnormalities reveals an important fraction of cases with associated gene defects. Peer J 4, e1955.","journal-title":"Peer J"},{"key":"9541_CR28","doi-asserted-by":"publisher","first-page":"1065","DOI":"10.1038\/s41436-018-0298-8","volume":"21","author":"E Quinlan-Jones","year":"2019","unstructured":"Quinlan-Jones, E., Lord, J., Williams, D., Hamilton, S., Marton, T., Eberhardt, R.Y., Rinck, G., Prigmore, E., Keelagher, R., McMullan, D. J., et al. (2019). Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies. Genet Med 21, 1065\u20131073.","journal-title":"Genet Med"},{"key":"9541_CR29","doi-asserted-by":"publisher","first-page":"696","DOI":"10.1038\/gim.2015.148","volume":"18","author":"K Retterer","year":"2016","unstructured":"Retterer, K., Juusola, J., Cho, M.T., Vitazka, P., Millan, F., Gibellini, F., Vertino-Bell, A., Smaoui, N., Neidich, J., Monaghan, K.G., et al. (2016). Clinical application of whole-exome sequencing across clinical indications. Genet Med 18, 696\u2013704.","journal-title":"Genet Med"},{"key":"9541_CR30","first-page":"756","volume":"7","author":"L Rynn","year":"2008","unstructured":"Rynn, L., Cragan, J., and Correa, A. (2008). Update on overall prevalence of major birth defects\u2014Atlanta, Georgia, 1978\u20132005 (Reprinted from MMWR, vol 57, 1\u20135, 2008). Jama-J Am Med Assoc 7, 756\u2013758.","journal-title":"Jama-J Am Med Assoc"},{"key":"9541_CR31","doi-asserted-by":"publisher","first-page":"1405","DOI":"10.1038\/ng.2776","volume":"45","author":"CP Schaaf","year":"2013","unstructured":"Schaaf, C.P., Gonzalez-Garay, M.L., Xia, F., Potocki, L., Gripp, K.W., Zhang, B., Peters, B.A., McElwain, M.A., Drmanac, R., Beaudet, A.L., et al. (2013). Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. Nat Genet 45, 1405\u20131408.","journal-title":"Nat Genet"},{"key":"9541_CR32","doi-asserted-by":"publisher","first-page":"1122","DOI":"10.1038\/gim.2017.247","volume":"20","author":"K Schwarze","year":"2018","unstructured":"Schwarze, K., Buchanan, J., Taylor, J.C., and Wordsworth, S. (2018). Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature. Genet Med 20, 1122\u20131130.","journal-title":"Genet Med"},{"key":"9541_CR33","doi-asserted-by":"publisher","first-page":"307","DOI":"10.1038\/gim.2012.130","volume":"15","author":"HE Shamseldin","year":"2013","unstructured":"Shamseldin, H.E., Swaid, A., and Alkuraya, F.S. (2013). Lifting the lid on unborn lethal Mendelian phenotypes through exome sequencing. Genet Med 15, 307\u2013309.","journal-title":"Genet Med"},{"key":"9541_CR34","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1002\/pd.5175","volume":"38","author":"KL Stals","year":"2018","unstructured":"Stals, K.L., Wakeling, M., Baptista, J., Caswell, R., Parrish, A., Rankin, J., Tysoe, C., Jones, G., Gunning, A.C., Lango Allen, H., et al. (2018). Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing. Prenat Diagn 38, 33\u201343.","journal-title":"Prenat Diagn"},{"key":"9541_CR35","doi-asserted-by":"publisher","first-page":"1090","DOI":"10.1038\/gim.2016.1","volume":"18","author":"Z Stark","year":"2016","unstructured":"Stark, Z., Tan, T.Y., Chong, B., Brett, G.R., Yap, P., Walsh, M., Yeung, A., Peters, H., Mordaunt, D., Cowie, S., et al. (2016). A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. Genet Med 18, 1090\u20131096.","journal-title":"Genet Med"},{"key":"9541_CR36","doi-asserted-by":"publisher","first-page":"630","DOI":"10.1016\/j.ygeno.2005.02.004","volume":"85","author":"M Stefan","year":"2005","unstructured":"Stefan, M., Portis, T., Longnecker, R., and Nicholls, R.D. (2005). A nonimprinted Prader-Willi Syndrome (PWS)-region gene regulates a different chromosomal domain in trans but the imprinted pws loci do not alter genome-wide mRNA levels. Genomics 85, 630\u2013640.","journal-title":"Genomics"},{"key":"9541_CR37","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1002\/bdr2.1105","volume":"110","author":"MH Toufaily","year":"2018","unstructured":"Toufaily, M.H., Westgate, M.N., Lin, A.E., and Holmes, L.B. (2018). Causes of congenital malformations. Birth Defects Res 110, 87\u201391.","journal-title":"Birth Defects Res"},{"key":"9541_CR38","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1186\/gm475","volume":"5","author":"N Van der Aa","year":"2013","unstructured":"Van der Aa, N., Zamani Esteki, M., Vermeesch, J.R., and Voet, T. (2013). Preimplantation genetic diagnosis guided by single-cell genomics. Genome Med 5, 71.","journal-title":"Genome Med"},{"key":"9541_CR39","doi-asserted-by":"publisher","first-page":"112e","DOI":"10.1136\/jmg.40.10.e112","volume":"40","author":"WMA Verhoeven","year":"2003","unstructured":"Verhoeven, W.M.A., Tuinier, S., and Curfs, L.M.G. (2003). Prader-Willi syndrome: the psychopathological phenotype in uniparental disomy. J Med Genet 40, 112e.","journal-title":"J Med Genet"},{"key":"9541_CR40","doi-asserted-by":"publisher","first-page":"15964","DOI":"10.1073\/pnas.1523297113","volume":"112","author":"L Yan","year":"2015","unstructured":"Yan, L., Huang, L., Xu, L., Huang, J., Ma, F., Zhu, X., Tang, Y., Liu, M., Lian, Y., Liu, P., et al. (2015). Live births after simultaneous avoidance of monogenic diseases and chromosome abnormality by next-generation sequencing with linkage analyses. Proc Natl Acad Sci USA 112, 15964\u201315969.","journal-title":"Proc Natl Acad Sci USA"},{"key":"9541_CR41","doi-asserted-by":"publisher","first-page":"505","DOI":"10.1016\/j.jgg.2018.05.006","volume":"45","author":"Z Yan","year":"2018","unstructured":"Yan, Z., Wang, Y., Nie, Y., Zhi, X., Zhu, X., Qin, M., Guan, S., Ren, Y., Kuo, Y., Chang, D., et al. (2018). Identifying normal embryos from reciprocal translocation carriers by whole chromosome haplotyping. J Genet Genomics 45, 505\u2013508.","journal-title":"J Genet Genomics"},{"key":"9541_CR42","doi-asserted-by":"publisher","first-page":"1502","DOI":"10.1056\/NEJMoa1306555","volume":"369","author":"Y Yang","year":"2013","unstructured":"Yang, Y., Muzny, D.M., Reid, J.G., Bainbridge, M.N., Willis, A., Ward, P. A., Braxton, A., Beuten, J., Xia, F., Niu, Z., et al. (2013). Clinical whole-exome sequencing for the diagnosis of Mendelian disorders. N Engl J Med 369, 1502\u20131511.","journal-title":"N Engl J Med"},{"key":"9541_CR43","doi-asserted-by":"publisher","first-page":"1870","DOI":"10.1001\/jama.2014.14601","volume":"312","author":"Y Yang","year":"2014","unstructured":"Yang, Y., Muzny, D.M., Xia, F., Niu, Z., Person, R., Ding, Y., Ward, P., Braxton, A., Wang, M., Buhay, C., et al. (2014). Molecular findings among patients referred for clinical whole-exome sequencing. JAMA 312, 1870\u20131879.","journal-title":"JAMA"},{"key":"9541_CR44","doi-asserted-by":"publisher","first-page":"286","DOI":"10.1186\/s12859-017-1705-x","volume":"18","author":"F Zare","year":"2017","unstructured":"Zare, F., Dow, M., Monteleone, N., Hosny, A., and Nabavi, S. (2017). An evaluation of copy number variation detection tools for cancer using whole exome sequencing data. BMC BioInf 18, 286.","journal-title":"BMC BioInf"},{"key":"9541_CR45","doi-asserted-by":"publisher","first-page":"774","DOI":"10.1038\/gim.2014.191","volume":"17","author":"X Zhu","year":"2015","unstructured":"Zhu, X., Petrovski, S., Xie, P., Ruzzo, E.K., Lu, Y.F., McSweeney, K.M., Ben-Zeev, B., Nissenkorn, A., Anikster, Y., Oz-Levi, D., et al. (2015). Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. Genet Med 17, 774\u2013781.","journal-title":"Genet Med"}],"container-title":["Science China Life Sciences"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s11427-019-9541-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s11427-019-9541-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s11427-019-9541-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,5,28]],"date-time":"2020-05-28T23:36:13Z","timestamp":1590708973000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s11427-019-9541-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,5,30]]},"references-count":45,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2019,7]]}},"alternative-id":["9541"],"URL":"https:\/\/doi.org\/10.1007\/s11427-019-9541-0","relation":{},"ISSN":["1674-7305","1869-1889"],"issn-type":[{"value":"1674-7305","type":"print"},{"value":"1869-1889","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,5,30]]},"assertion":[{"value":"17 March 2019","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"15 April 2019","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 May 2019","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}]}}