Zobrazeno 1 - 10
of 440
pro vyhledávání: '"Joshua C, Denny"'
Autor:
Kathleen Ferar, Taryn O. Hall, Dana C. Crawford, Robb Rowley, Benjamin A. Satterfield, Rongling Li, Loren Gragert, Elizabeth W. Karlson, Mariza de Andrade, Iftikhar J. Kullo, Catherine A. McCarty, Abel Kho, M. Geoffrey Hayes, Marylyn D. Ritchie, Paul K. Crane, Daniel B. Mirel, Christopher Carlson, John J. Connolly, Hakon Hakonarson, Andrew T. Crenshaw, David Carrell, Yuan Luo, Ozan Dikilitas, Joshua C. Denny, Gail P. Jarvik, David R. Crosslin
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-15 (2023)
Abstract Clostridioides difficile (C. diff.) infection (CDI) is a leading cause of hospital acquired diarrhea in North America and Europe and a major cause of morbidity and mortality. Known risk factors do not fully explain CDI susceptibility, and ge
Externí odkaz:
https://doaj.org/article/458631016886416d88885a8ac733ac36
Autor:
Nicole Deflaux, Margaret Sunitha Selvaraj, Henry Robert Condon, Kelsey Mayo, Sara Haidermota, Melissa A. Basford, Chris Lunt, Anthony A. Philippakis, Dan M. Roden, Joshua C. Denny, Anjene Musick, Rory Collins, Naomi Allen, Mark Effingham, David Glazer, Pradeep Natarajan, Alexander G. Bick
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-10 (2023)
Abstract Recently, large scale genomic projects such as All of Us and the UK Biobank have introduced a new research paradigm where data are stored centrally in cloud-based Trusted Research Environments (TREs). To characterize the advantages and drawb
Externí odkaz:
https://doaj.org/article/5b19d5111ef64f9c86ba31efe3a52fc4
Autor:
Tiffany J. Callahan, Adrianne L. Stefanski, Jordan M. Wyrwa, Chenjie Zeng, Anna Ostropolets, Juan M. Banda, William A. Baumgartner, Richard D. Boyce, Elena Casiraghi, Ben D. Coleman, Janine H. Collins, Sara J. Deakyne Davies, James A. Feinstein, Asiyah Y. Lin, Blake Martin, Nicolas A. Matentzoglu, Daniella Meeker, Justin Reese, Jessica Sinclair, Sanya B. Taneja, Katy E. Trinkley, Nicole A. Vasilevsky, Andrew E. Williams, Xingmin A. Zhang, Joshua C. Denny, Patrick B. Ryan, George Hripcsak, Tellen D. Bennett, Melissa A. Haendel, Peter N. Robinson, Lawrence E. Hunter, Michael G. Kahn
Publikováno v:
npj Digital Medicine, Vol 6, Iss 1, Pp 1-18 (2023)
Abstract Common data models solve many challenges of standardizing electronic health record (EHR) data but are unable to semantically integrate all of the resources needed for deep phenotyping. Open Biological and Biomedical Ontology (OBO) Foundry on
Externí odkaz:
https://doaj.org/article/19e71d5e4d104d89b86f312e42ae7202
Autor:
Lili Liu, Atlas Khan, Elena Sanchez-Rodriguez, Francesca Zanoni, Yifu Li, Nicholas Steers, Olivia Balderes, Junying Zhang, Priya Krithivasan, Robert A. LeDesma, Clara Fischman, Scott J. Hebbring, John B. Harley, Halima Moncrieffe, Leah C. Kottyan, Bahram Namjou-Khales, Theresa L. Walunas, Rachel Knevel, Soumya Raychaudhuri, Elizabeth W. Karlson, Joshua C. Denny, Ian B. Stanaway, David Crosslin, Thomas Rauen, Jürgen Floege, Frank Eitner, Zina Moldoveanu, Colin Reily, Barbora Knoppova, Stacy Hall, Justin T. Sheff, Bruce A. Julian, Robert J. Wyatt, Hitoshi Suzuki, Jingyuan Xie, Nan Chen, Xujie Zhou, Hong Zhang, Lennart Hammarström, Alexander Viktorin, Patrik K. E. Magnusson, Ning Shang, George Hripcsak, Chunhua Weng, Tatjana Rundek, Mitchell S. V. Elkind, Elizabeth C. Oelsner, R. Graham Barr, Iuliana Ionita-Laza, Jan Novak, Ali G. Gharavi, Krzysztof Kiryluk
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-17 (2022)
Immunoglobulin A protects against infectious disease and contributes to autoimmune and inflammatory disorders. Here, the authors perform a genome-wide association study for serum IgA levels, identifying 20 genome-wide significant loci, providing new
Externí odkaz:
https://doaj.org/article/a56e340c9bb948a69e4eb08fc8a4c941
Autor:
Xinyuan Zhang, Anastasia M. Lucas, Yogasudha Veturi, Theodore G. Drivas, William P. Bone, Anurag Verma, Wendy K. Chung, David Crosslin, Joshua C. Denny, Scott Hebbring, Gail P. Jarvik, Iftikhar Kullo, Eric B. Larson, Laura J. Rasmussen-Torvik, Daniel J. Schaid, Jordan W. Smoller, Ian B. Stanaway, Wei-Qi Wei, Chunhua Weng, Marylyn D. Ritchie
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-12 (2022)
Circulatory system diseases and nervous system disorders often co-occur in patients. Here the authors use eMERGE and UK BioBank data to identify genomic regions associated with both phenotypes, providing insight into the relationship between these co
Externí odkaz:
https://doaj.org/article/4e82c50b745f4c0f8cbf12c5aaa0ea67
Autor:
Kathleen Ferar, Taryn O. Hall, Dana C. Crawford, Robb Rowley, Benjamin A. Satterfield, Rongling Li, Loren Gragert, Elizabeth W. Karlson, Mariza de Andrade, Iftikhar J. Kullo, Catherine A. McCarty, Abel Kho, M. Geoffrey Hayes, Marylyn D. Ritchie, Paul K. Crane, Daniel B. Mirel, Christopher Carlson, John J. Connolly, Hakon Hakonarson, Andrew T. Crenshaw, David Carrell, Yuan Luo, Ozan Dikilitas, Joshua C. Denny, Gail P. Jarvik, David R. Crosslin
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-1 (2023)
Externí odkaz:
https://doaj.org/article/417a9751ee31449c8b62fe24ec694497
Autor:
Yen-Chen A. Feng, Ian B. Stanaway, John J. Connolly, Joshua C. Denny, Yuan Luo, Chunhua Weng, Wei-Qi Wei, Scott T. Weiss, Elizabeth W. Karlson, Jordan W. Smoller
Publikováno v:
BMC Genomics, Vol 23, Iss 1, Pp 1-12 (2022)
Abstract Background As genomic sequencing moves closer to clinical implementation, there has been an increasing acceptance of returning incidental findings to research participants and patients for mutations in highly penetrant, medically actionable
Externí odkaz:
https://doaj.org/article/1d172a6eb2b243b18252e93e437d1df3
Publikováno v:
PLoS ONE, Vol 18, Iss 8 (2023)
Alpha-1 antitrypsin deficiency (AATD), a relatively common autosomal recessive genetic disorder, is underdiagnosed in symptomatic individuals. We sought to compare the risk of liver transplantation associated with hepatitis C infection with AATD hete
Externí odkaz:
https://doaj.org/article/b7f0b8ed2cd449d2b9713211c35c264c
Autor:
Yoonjung Yoonie Joo, Jennifer A Pacheco, William K Thompson, Laura J Rasmussen-Torvik, Luke V Rasmussen, Frederick T J Lin, Mariza de Andrade, Kenneth M Borthwick, Erwin Bottinger, Andrew Cagan, David S Carrell, Joshua C Denny, Stephen B Ellis, Omri Gottesman, James G Linneman, Jyotishman Pathak, Peggy L Peissig, Ning Shang, Gerard Tromp, Annapoorani Veerappan, Maureen E Smith, Rex L Chisholm, Andrew J Gawron, M Geoffrey Hayes, Abel N Kho
Publikováno v:
PLoS ONE, Vol 18, Iss 5, p e0283553 (2023)
ObjectiveDiverticular disease (DD) is one of the most prevalent conditions encountered by gastroenterologists, affecting ~50% of Americans before the age of 60. Our aim was to identify genetic risk variants and clinical phenotypes associated with DD,
Externí odkaz:
https://doaj.org/article/78f28682110648cfbe41e76d4bf5e28c
Autor:
Patrick Wu, QiPing Feng, Vern Eric Kerchberger, Scott D. Nelson, Qingxia Chen, Bingshan Li, Todd L. Edwards, Nancy J. Cox, Elizabeth J. Phillips, C. Michael Stein, Dan M. Roden, Joshua C. Denny, Wei-Qi Wei
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-12 (2022)
Prioritizing drug repurposing candidates for downstream studies remains challenging. Here, the authors present a high-throughput approach to identify and validate drug repurposing candidates, integrating human gene expression, drug perturbation, and
Externí odkaz:
https://doaj.org/article/21ab9d056390420ba81493fa1607bba7