Description and pilot results from a novel method for evaluating return of incidental findings from next-generation sequencing technologies.

Iris Schrijver, Nazneen Aziz, Daniel H. Farkas, Manohar Furtado, Andrea Ferreira Gonzalez, Timothy C. Greiner, Wayne W. Grody, Tina Hambuch, Lisa Kalman, Jeffrey A. Kant, Roger D. Klein, Debra G.B. Leonard, Ira M. Lubin, Rong Mao, Narasimhan Nagan, Victoria M. Pratt, Mark E. Sobel, Karl V. Voelkerding, Jane S. Gibson, Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for Molecular Pathology. The Journal of Molecular Diagnostics. ,vol. 14, pp. 525- 540 ,(2012) , 10.1016/J.JMOLDX.2012.04.006

James Maxwell Glover Wilson, Gunnar Jungner, World Health Organization, None, Principles and practice of screening for disease ,(1968)

David L. Veenstra, , Margaret Piper, James E. Haddow, Stephen G. Pauker, Roger Klein, Carolyn Sue Richards, Sean R. Tunis, Benjamin Djulbegovic, Michael Marrone, Jennifer S. Lin, Alfred O. Berg, Ned Calonge, Improving the efficiency and relevance of evidence-based recommendations in the era of whole-genome sequencing: an EGAPP methods update Genetics in Medicine. ,vol. 15, pp. 14- 24 ,(2013) , 10.1038/GIM.2012.106

Jeffrey R Botkin, Steven M Teutsch, Celia I Kaye, Maxine Hayes, James E Haddow, Linda A Bradley, Kathleen Szegda, W David Dotson, Outcomes of interest in evidence-based evaluations of genetic tests Genetics in Medicine. ,vol. 12, pp. 228- 235 ,(2010) , 10.1097/GIM.0B013E3181CDDE04

Stephanie M. Fullerton, Wendy A. Wolf, Kyle B. Brothers, Ellen Wright Clayton, Dana C. Crawford, Joshua C. Denny, Philip Greenland, Barbara A. Koenig, Kathleen A. Leppig, Noralane M. Lindor, Catherine A. McCarty, Amy L. McGuire, Eugenia R. McPeek Hinz, Daniel B. Mirel, Erin M. Ramos, Marylyn D. Ritchie, Maureen E. Smith, Carol J. Waudby, Wylie Burke, Gail P. Jarvik, Return of individual research results from genome-wide association studies: experience of the Electronic Medical Records and Genomics (eMERGE) Network. Genetics in Medicine. ,vol. 14, pp. 424- 431 ,(2012) , 10.1038/GIM.2012.15

Mary E Cogswell, Sharon M McDonnell, Muin J Khoury, Adele L Franks, Wylie Burke, Gary Brittenham, Iron Overload, Public Health, and Genetics: Evaluating the Evidence for Hemochromatosis Screening Annals of Internal Medicine. ,vol. 129, pp. 971- 979 ,(1998) , 10.7326/0003-4819-129-11_PART_2-199812011-00008

Jun Wang, Wei Wang, Ruiqiang Li, Yingrui Li, Geng Tian, Laurie Goodman, Wei Fan, Junqing Zhang, Jun Li, Juanbin Zhang, Yiran Guo, Binxiao Feng, Heng Li, Yao Lu, Xiaodong Fang, Huiqing Liang, Zhenglin Du, Dong Li, Yiqing Zhao, Yujie Hu, Zhenzhen Yang, Hancheng Zheng, Ines Hellmann, Michael Inouye, John Pool, Xin Yi, Jing Zhao, Jinjie Duan, Yan Zhou, Junjie Qin, Lijia Ma, Guoqing Li, Zhentao Yang, Guojie Zhang, Bin Yang, Chang Yu, Fang Liang, Wenjie Li, Shaochuan Li, Dawei Li, Peixiang Ni, Jue Ruan, Qibin Li, Hongmei Zhu, Dongyuan Liu, Zhike Lu, Ning Li, Guangwu Guo, Jianguo Zhang, Jia Ye, Lin Fang, Qin Hao, Quan Chen, Yu Liang, Yeyang Su, A San, Cuo Ping, Shuang Yang, Fang Chen, Li Li, Ke Zhou, Hongkun Zheng, Yuanyuan Ren, Ling Yang, Yang Gao, Guohua Yang, Zhuo Li, Xiaoli Feng, Karsten Kristiansen, Gane Ka-Shu Wong, Rasmus Nielsen, Richard Durbin, Lars Bolund, Xiuqing Zhang, Songgang Li, Huanming Yang, Jian Wang, None, The diploid genome sequence of an Asian individual. Nature. ,vol. 456, pp. 60- 65 ,(2008) , 10.1038/NATURE07484

David R Bentley, Shankar Balasubramanian, Harold P Swerdlow, Geoffrey P Smith, John Milton, Clive G Brown, Kevin P Hall, Dirk J Evers, Colin L Barnes, Helen R Bignell, Jonathan M Boutell, Jason Bryant, Richard J Carter, R Keira Cheetham, Anthony J Cox, Darren J Ellis, Michael R Flatbush, Niall A Gormley, Sean J Humphray, Leslie J Irving, Mirian S Karbelashvili, Scott M Kirk, Heng Li, Xiaohai Liu, Klaus S Maisinger, Lisa J Murray, Bojan Obradovic, Tobias Ost, Michael L Parkinson, Mark R Pratt, Isabelle MJ Rasolonjatovo, Mark T Reed, Roberto Rigatti, Chiara Rodighiero, Mark T Ross, Andrea Sabot, Subramanian V Sankar, Aylwyn Scally, Gary P Schroth, Mark E Smith, Vincent P Smith, Anastassia Spiridou, Peta E Torrance, Svilen S Tzonev, Eric H Vermaas, Klaudia Walter, Xiaolin Wu, Lu Zhang, Mohammed D Alam, Carole Anastasi, Ify C Aniebo, David MD Bailey, Iain R Bancarz, Saibal Banerjee, Selena G Barbour, Primo A Baybayan, Vincent A Benoit, Kevin F Benson, Claire Bevis, Phillip J Black, Asha Boodhun, Joe S Brennan, John A Bridgham, Rob C Brown, Andrew A Brown, Dale H Buermann, Abass A Bundu, James C Burrows, Nigel P Carter, Nestor Castillo, Maria Chiara E. Catenazzi, Simon Chang, R Neil Cooley, Natasha R Crake, Olubunmi O Dada, Konstantinos D Diakoumakos, Belen Dominguez-Fernandez, David J Earnshaw, Ugonna C Egbujor, David W Elmore, Sergey S Etchin, Mark R Ewan, Milan Fedurco, Louise J Fraser, Karin V Fuentes Fajardo, W Scott Furey, David George, Kimberley J Gietzen, Colin P Goddard, George S Golda, Philip A Granieri, David E Green, David L Gustafson, Nancy F Hansen, Kevin Harnish, Christian D Haudenschild, Narinder I Heyer, Matthew M Hims, Johnny T Ho, Adrian M Horgan, Katya Hoschler, Steve Hurwitz, Denis V Ivanov, Maria Q Johnson, Terena James, TA Huw Jones, Gyoung-Dong Kang, Tzvetana H Kerelska, Alan D Kersey, Irina Khrebtukova, Alex P Kindwall, Zoya Kingsbury, Paula I Kokko-Gonzales, Anil Kumar, Marc A Laurent, Cynthia T Lawley, Sarah E Lee, Xavier Lee, Arnold K Liao, Jennifer A Loch, Mitch Lok, Shujun Luo, Radhika M Mammen, John W Martin, Patrick G McCauley, Paul McNitt, Parul Mehta, Keith W Moon, Joe W Mullens, Taksina Newington, Zemin Ning, Bee Ling Ng, Sonia M Novo, Michael J O’Neill, Mark A Osborne, Andrew Osnowski, Omead Ostadan, Lambros L Paraschos, Lea Pickering, Andrew C Pike, Alger C Pike, D Chris Pinkard, Daniel P Pliskin, Joe Podhasky, Victor J Quijano, Come Raczy, Vicki H Rae, Stephen R Rawlings, Ana Chiva Rodriguez, Phyllida M Roe, None, Accurate whole human genome sequencing using reversible terminator chemistry Nature. ,vol. 456, pp. 53- 59 ,(2008) , 10.1038/NATURE07517

Christina Ellervik, Henrik Birgens, Anne Tybjaerg-Hansen, Børge G. Nordestgaard, Hemochromatosis genotypes and risk of 31 disease endpoints: meta-analyses including 66,000 cases and 226,000 controls. Hepatology. ,vol. 46, pp. 1071- 1080 ,(2007) , 10.1002/HEP.21885

Alla Katsnelson, Epigenome effort makes its mark Nature. ,vol. 467, pp. 646- 646 ,(2010) , 10.1038/467646A