The MedSeq Project: A randomized trial of integrating whole genome sequencing into clinical medicine

Suzanne M O'Neill, Wendy S Rubinstein, Catharine Wang, Paula W Yoon, Louise S Acheson, Nan Rothrock, Erin J Starzyk, Jennifer L Beaumont, James M Galliher, Mack T Ruffin IV, Family Healthware™ Impact Trial group, None, Familial risk for common diseases in primary care: the Family Healthware Impact Trial. American Journal of Preventive Medicine. ,vol. 36, pp. 506- 514 ,(2009) , 10.1016/J.AMEPRE.2009.03.002

Robert C. Green, Heidi L. Rehm, Isaac S. Kohane, Clinical Genome Sequencing Genomic and Personalized Medicine (Second Edition)#R##N#V1-2. pp. 102- 122 ,(2013) , 10.1016/B978-0-12-382227-7.00009-4

Michael P Douglas, Uri Ladabaum, Mark J Pletcher, Deborah A Marshall, Kathryn A Phillips, None, Economic evidence on identifying clinically actionable findings with whole-genome sequencing: a scoping review Genetics in Medicine. ,vol. 18, pp. 111- 116 ,(2016) , 10.1038/GIM.2015.69

Linnea M. Baudhuin, Susan A. Lagerstedt, Eric W. Klee, Numrah Fadra, Devin Oglesbee, Matthew J. Ferber, Confirming Variants in Next-Generation Sequencing Panel Testing by Sanger Sequencing The Journal of Molecular Diagnostics. ,vol. 17, pp. 456- 461 ,(2015) , 10.1016/J.JMOLDX.2015.03.004

Madhuri Hegde, Sherri Bale, Pinar Bayrak-Toydemir, Jane Gibson, Linda Jo Bone Jeng, Loren Joseph, Jordan Laser, Ira M. Lubin, Christine E. Miller, Lainie F. Ross, Paul G. Rothberg, Alice K. Tanner, Patrik Vitazka, Rong Mao, Reporting incidental findings in genomic scale clinical sequencing--a clinical laboratory perspective: a report of the Association for Molecular Pathology. The Journal of Molecular Diagnostics. ,vol. 17, pp. 107- 117 ,(2015) , 10.1016/J.JMOLDX.2014.10.004

TE Klein, RB Altman, Niclas Eriksson, BF Gage, SE Kimmel, MT Lee, NA Limdi, D Page, DM Roden, MJ Wagner, MD Caldwell, JA Johnson, YT Chen, MS Wen, Y Caraco, I Achache, S Blotnick, M Muszkat, JG Shin, HS Kim, G Suarez-Kurtz, JA Perini, E Silva-Assuncao, JL Anderson, BD Horne, JF Carlquist, RL Berg, JK Burmester, BC Goh, SC Lee, F Kamali, E Sconce, AK Daly, AH Wu, TY Langaee, H Feng, L Cavallari, K Momary, M Pirmohamed, A Jorgensen, CH Toh, P Williamson, H McLeod, JP Evans, KE Weck, C Brensinger, Y Nakamura, T Mushiroda, D Veenstra, L Meckley, MJ Rieder, AE Rettie, M Wadelius, H Melhus, CM Stein, U Schwartz, D Kurnik, E Deych, P Lenzini, C Eby, LY Chen, P Deloukas, A Motsinger-Reif, H Sagreiya, BS Srinivasan, E Lantz, T Chang, M Ritchie, LS Lu, Estimation of the warfarin dose with clinical and pharmacogenetic data The New England Journal of Medicine. ,vol. 360, pp. 753- 764 ,(2009) , 10.1056/NEJMOA0809329

Tzipora Shoshani, Arie Augarten, Ephraim Gazit, Nurit Bashan, Yaakov Yahav, Yosef Rivlin, Asher Tal, Hagit Seret, Liora Yaar, E Kerem, Bat-sheva Kerem, Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease. American Journal of Human Genetics. ,vol. 50, pp. 222- 228 ,(1992)

H Duzkale, J Shen, H McLaughlin, A Alfares, MA Kelly, TJ Pugh, BH Funke, HL Rehm, MS Lebo, A systematic approach to assessing the clinical significance of genetic variants. Clinical Genetics. ,vol. 84, pp. 453- 463 ,(2013) , 10.1111/CGE.12257

SLCO1B1 variants and statin-induced myopathy--a genomewide study The New England Journal of Medicine. ,vol. 359, pp. 789- 799 ,(2008) , 10.1056/NEJMOA0801936

N. Raben, J. Sherman, F. Miller, H. Mena, P. Plotz, A 5' splice junction mutation leading to exon deletion in an Ashkenazic Jewish family with phosphofructokinase deficiency (Tarui disease). Journal of Biological Chemistry. ,vol. 268, pp. 4963- 4967 ,(1993) , 10.1016/S0021-9258(18)53489-X