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Articles by Nelson B. Freimer
A blended genome and exome sequencing method captures genetic variation in an unbiased and cost-effective manner
Abstract Here we developed and deployed the blended genome exome (BGE) method, a DNA library approach that generates low-pass whole-genome (1–4× mean depth) and deep whole-exome (30–40× mean depth) data in a single sequencing run. BGE is cost-effective, empowers most genomic discoveries possible with deep whole-genome sequencing and captures global common single-nucleotide polymorphism diversity.
The PRIMED Consortium: Reducing disparities in polygenic risk assessment
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Keywords polygenic risk score equity diversity Introduction As genomic technologies spur progress in several areas of precision medicine, inequity in translating these advances to diverse groups has become evident.
By Iftikhar J. Kullo, Matthew P. Conomos, Sally N. Adebamowo, Ananyo Choudhury, Stephanie Fullerton, Stephanie M Gogarten, Ben Heavner, Whitney E. Hornsby, Eimear E. Kenny, Alyna khan, Amit V. Khera, Yun Li Verified, Iman K. Martin, Josep M. Mercader, Maggie Ng, Laura M. Raffield, Alex P. Reiner, Robb Rowley, Daniel J. Schaid, Adrienne M. Stilp, Ken Wiley, Riley Wilson, John Witte, Pradeep Natarajan, Clement Adebamowo, Paul L. Auer, Jennifer E. Below, Palwende Romuald Boua, Kristin Boulier, Michael Bowers, Joseph Breeyear, Nilanjan Chatterjee, Tinashe Chikowore, Jaewon Choi, Nancy Cox, Sinead Cullina, Burcu F Darst, Aaron Deutsch, Yi Ding, Todd Edwards, Eleazar Eskin, Segun Fatumo, Jose C. Florez, José Miguel Florez, José Fernando Flórez, Nelson B. Freimer, Tian Ge, Daniel H Geschwind, Chris R. Gignoux, Mark O Goodarzi, Xiuqing Guo, Christopher A. Haiman, Neil A. Hanchard, Scott Hazelhurst, Susan R. Heckbert, Jibril B. Hirbo, Kangcheng Hou, Qinqin Huang, Alicia Huerta, Guoqian Jiang, Katherine Johnston, Linda Kachuri, Takashi Kadowaki, Abram Bunya Kamiza, Sarah L. Kerns, Joohyun Kim, Iain R. Konigsberg, Charles Kooperberg, Matt Kosel, Peter Kraft, Soo-Heon Kwak, Leslie Lange, Loic Le Marchand, Hyunsuk Lee, Aaron Leong, Meng Lin, Kirk E. Lohmueller, Ruth J. F. Loos, Kevin Lu, Alisa Manning, Alicia Martin, Hilary Abom Martin, Rasika A. Mathias, James B Meigs, Rachel Mester, Mariah C. Meyer, Tyne Miller-Fleming, Braxton D. Mitchell, Nicola Mulder, Jie Na, Kristjan Norland, Loes Olde Loohuis, Suna Onengut-Gumuscu, Roel A. Ophoff, Päivi Pajukanta, Bogdan Pasaniuc, Aniruddh Patel, Ulrike Peters, Jimmy Phuong, Michael Preuss, Bruce M. Psaty, Michèle Ramsay, Kenneth Rice, Stephen F. Rich, Jerome I. Rotter, Yunfeng Ruan, Lori C. Sakoda, Philip Schroeder, Jonathan A Shortt, Megan Shuey, Xueling Sim, Roelof A.J. Smit, Johanna Smith, Lucia Sobrin, Daniel O. Stram, Ken Suzuki, Lukasz Szczerbinski, Ran Tao, Bamidele Tayo, Timothy Thornton, Buu Truong, Miriam S. Udler, David van Heel, Luciana B. Vargas, Vidhya Venkateswaran, YING WANG, Jennifer A. Wessel, Laura Wiley, Lynne R Wilkens, Genevieve L Wojcik, Quenna Wong, Toshimasa Yamauchi, Lisa R. Yanek, Yue Stell Yu, Haoyu Zhang, Yuji Zhang, Michael Zhong, Nicholette Allred, Ethan Lange, Ravi Mandia, Ebuka Oneyobi, Bryce Rowan, Siram Sankararaman, Dan Schaid, Dan Schrider, Ruhoilah Shemirani, Lauren Stalbow, Teresa Tusie, David Conti
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The American Journal of Human Genetics
Verified
Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia - Nature Genetics
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Abstract We report results from the Bipolar Exome (BipEx) collaboration analysis of whole-exome sequencing of 13,933 patients with bipolar disorder (BD) matched with 14,422 controls. We find an excess of ultra-rare protein-truncating variants (PTVs) in patients with BD among genes under strong evolutionary constraint in both major BD subtypes.
By Duncan Palmer, Daniel P. Howrigan, Sinéad B. Chapman, Douglas H. Blackwood, Chia-Yen Chen, David Curtis, Nelson B. Freimer, Fernando S. Goes, Ian Jones, Lisa Jones, René S. Kahn, Mikael Landén, Adam E. Locke, Andrew McIntosh, Andrew Mcintosh, Andrew McQuillin, Derek Morris, Michael O’Donovan, Roel A. Ophoff, Michael Owen, Danielle Posthuma, Andreas Reif, Catherine A. Schaefer, Laura Scott, Tarjinder Singh, Jordan W. Smoller, Weiqing Wang, Benjamin M. Neale
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Nature
Verified
Integrating behavioural health tracking in human genetics research
Internet-connected devices could transform our understanding of the causes of behavioural variation and its impact on health and disease, in particular for neuropsychiatric disorders. Access optionsAccess options Subscribe to Journal Get full journal access for 1 year $265.00 only $22.08 per issue All prices are NET prices. VAT will be added later in the checkout. Rent or Buy article Get time limited or full article access on ReadCube. from$8.99 All prices are NET prices. References 1. Sullivan, P. F.
Errors in Identification of 17 of 527 Brain Images in Genetic Study of Phenotypes Associated With Bipolar Disorder
The American Medical Association is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians. The AMA designates this journal-based CME activity for a maximum of 1 AMA PRA Category 1 CreditTM per course. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
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