Zobrazeno 1 - 10
of 49
pro vyhledávání: '"Ginger A, Metcalf"'
Autor:
Sairam Behera, Jonathan R. Belyeu, Xiao Chen, Luis F. Paulin, Ngoc Quynh H. Nguyen, Emma Newman, Medhat Mahmoud, Vipin K. Menon, Qibin Qi, Parag Joshi, Santica Marcovina, Massimiliano Rossi, Eric Roller, James Han, Vitor Onuchic, Christy L. Avery, Christie M. Ballantyne, Carlos J. Rodriguez, Robert C. Kaplan, Donna M. Muzny, Ginger A. Metcalf, Richard A. Gibbs, Bing Yu, Eric Boerwinkle, Michael A. Eberle, Fritz J. Sedlazeck
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-15 (2024)
Abstract The abundance of Lp(a) protein holds significant implications for the risk of cardiovascular disease (CVD), which is directly impacted by the copy number (CN) of KIV-2, a 5.5 kbp sub-region. KIV-2 is highly polymorphic in the population and
Externí odkaz:
https://doaj.org/article/b08e11c0c6a64b4e840870232441e2bd
Publikováno v:
Genome Biology, Vol 23, Iss 1, Pp 1-20 (2022)
Abstract The fundamental challenge of multi-sample structural variant (SV) analysis such as merging and benchmarking is identifying when two SVs are the same. Common approaches for comparing SVs were developed alongside technologies which produce ill
Externí odkaz:
https://doaj.org/article/4308337bc5d741588959b3fd5f42fa91
Autor:
Eric Venner, Donna Muzny, Joshua D. Smith, Kimberly Walker, Cynthia L. Neben, Christina M. Lockwood, Phillip E. Empey, Ginger A. Metcalf, Chris Kachulis, The All of Us Research Program Regulatory Working Group, Sana Mian, Anjene Musick, Heidi L. Rehm, Steven Harrison, Stacey Gabriel, Richard A. Gibbs, Deborah Nickerson, Alicia Y. Zhou, Kimberly Doheny, Bradley Ozenberger, Scott E. Topper, Niall J. Lennon
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-13 (2022)
Abstract Background The All of Us Research Program (AoURP, “the program”) is an initiative, sponsored by the National Institutes of Health (NIH), that aims to enroll one million people (or more) across the USA. Through repeated engagement of part
Externí odkaz:
https://doaj.org/article/e910cd798cad40ff995d316fed013e1c
Autor:
Xutong Zhao, Dandi Qiao, Chaojie Yang, Silva Kasela, Wonji Kim, Yanlin Ma, Nick Shrine, Chiara Batini, Tamar Sofer, Sarah A. Gagliano Taliun, Phuwanat Sakornsakolpat, Pallavi P. Balte, Dmitry Prokopenko, Bing Yu, Leslie A. Lange, Josée Dupuis, Brian E. Cade, Jiwon Lee, Sina A. Gharib, Michelle Daya, Cecelia A. Laurie, Ingo Ruczinski, L. Adrienne Cupples, Laura R. Loehr, Traci M. Bartz, Alanna C. Morrison, Bruce M. Psaty, Ramachandran S. Vasan, James G. Wilson, Kent D. Taylor, Peter Durda, W. Craig Johnson, Elaine Cornell, Xiuqing Guo, Yongmei Liu, Russell P. Tracy, Kristin G. Ardlie, François Aguet, David J. VanDenBerg, George J. Papanicolaou, Jerome I. Rotter, Kathleen C. Barnes, Deepti Jain, Deborah A. Nickerson, Donna M. Muzny, Ginger A. Metcalf, Harshavardhan Doddapaneni, Shannon Dugan-Perez, Namrata Gupta, Stacey Gabriel, Stephen S. Rich, George T. O’Connor, Susan Redline, Robert M. Reed, Cathy C. Laurie, Martha L. Daviglus, Liana K. Preudhomme, Kristin M. Burkart, Robert C. Kaplan, Louise V. Wain, Martin D. Tobin, Stephanie J. London, Tuuli Lappalainen, Elizabeth C. Oelsner, Goncalo R. Abecasis, Edwin K. Silverman, R. Graham Barr, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, TOPMed Lung Working Group, Michael H. Cho, Ani Manichaikul
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-12 (2020)
Chronic obstructive pulmonary disease is a leading cause of morbidity and mortality. Here, the authors analyse whole genome sequence data and find new loci associated with lung function and COPD.
Externí odkaz:
https://doaj.org/article/766c14dc6e2e403ab99c3712ee01a263
Autor:
Andrea K. Nash, Thomas A. Auchtung, Matthew C. Wong, Daniel P. Smith, Jonathan R. Gesell, Matthew C. Ross, Christopher J. Stewart, Ginger A. Metcalf, Donna M. Muzny, Richard A. Gibbs, Nadim J. Ajami, Joseph F. Petrosino
Publikováno v:
Microbiome, Vol 5, Iss 1, Pp 1-13 (2017)
Abstract Background Most studies describing the human gut microbiome in healthy and diseased states have emphasized the bacterial component, but the fungal microbiome (i.e., the mycobiome) is beginning to gain recognition as a fundamental part of our
Externí odkaz:
https://doaj.org/article/7d39fc61c9f249bb927de45363378a41
Autor:
Vasanthi Avadhanula, Chad J. Creighton, Laura Ferlic-Stark, Richard Sucgang, Yiqun Zhang, Divya Nagaraj, Erin G Nicholson, Anubama Rajan, Vipin Kumar Menon, Harshavardhan Doddapaneni, Donna M Muzny, Ginger A Metcalf, Sara Joan Javornik Cregeen, Kristi L Hoffman, Richard A Gibbs, Joseph J Petrosino, Pedro A Piedra
Publikováno v:
bioRxiv
Current understanding of viral dynamics of SARS-CoV-2 and host responses driving the pathogenic mechanisms in COVID-19 is rapidly evolving. Here, we conducted a longitudinal study to investigate gene expression patterns during acute SARS-CoV-2 illnes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de9345efe7b55b73650432f00c6675da
https://doi.org/10.1101/2023.05.24.542181
https://doi.org/10.1101/2023.05.24.542181
Autor:
Lauri Holmstrom, Ninad S. Chaudhary, Kotoka Nakamura, Harpriya Chugh, Audrey Uy-Evanado, Faye Norby, Ginger A. Metcalf, Vipin K. Menon, Bing Yu, Eric Boerwinkle, Sumeet S. Chugh, Zeynep Akdemir, Evan P. Kransdorf
Publikováno v:
Circulation: Genomic and Precision Medicine.
BackgroundSudden cardiac arrest (SCA) is a rare and tragic event among the young and often caused by inherited cardiac disease. Previous studies have investigated referral cohorts, but the prevalence of disease-associated variants is unclear at the c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::285cd4a96c40abaff242474e27eae6e0
https://doi.org/10.1161/circgen.123.004105
https://doi.org/10.1161/circgen.123.004105
Autor:
Nathan Pankratz, Peng Wei, Jennifer A Brody, Ming-Huei Chen, Paul S de Vries, Jennifer E Huffman, Mary Rachel Stimson, Paul L Auer, Eric Boerwinkle, Mary Cushman, Moniek P M de Maat, Aaron R Folsom, Oscar H Franco, Richard A Gibbs, Kelly K Haagenson, Albert Hofman, Jill M Johnsen, Christie L Kovar, Robert Kraaij, Barbara McKnight, Ginger A Metcalf, Donna Muzny, Bruce M Psaty, Weihong Tang, André G Uitterlinden, Jeroen G J van Rooij, Abbas Dehghan, Christopher J O'Donnell, Alex P Reiner, Alanna C Morrison, Nicholas L Smith
Publikováno v:
Hum Mol Genet
Plasma levels of fibrinogen, coagulation factors VII and VIII and von Willebrand factor (vWF) are four intermediate phenotypes that are heritable and have been associated with the risk of clinical thrombotic events. To identify rare and low-frequency
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02a7d75c79ba75f31f58b4ffc1eb8bf6
https://doi.org/10.1093/hmg/ddac100
https://doi.org/10.1093/hmg/ddac100
Autor:
Xiaowei Hu, Dandi Qiao, Wonji Kim, Matthew Moll, Pallavi P. Balte, Leslie A. Lange, Traci M. Bartz, Rajesh Kumar, Xingnan Li, Bing Yu, Brian E. Cade, Cecelia A. Laurie, Tamar Sofer, Ingo Ruczinski, Deborah A. Nickerson, Donna M. Muzny, Ginger A. Metcalf, Harshavardhan Doddapaneni, Stacy Gabriel, Namrata Gupta, Shannon Dugan-Perez, L. Adrienne Cupples, Laura R. Loehr, Deepti Jain, Jerome I. Rotter, James G. Wilson, Bruce M. Psaty, Myriam Fornage, Alanna C. Morrison, Ramachandran S. Vasan, George Washko, Stephen S. Rich, George T. O’Connor, Eugene Bleecker, Robert C. Kaplan, Ravi Kalhan, Susan Redline, Sina A. Gharib, Deborah Meyers, Victor Ortega, Josée Dupuis, Stephanie J. London, Tuuli Lappalainen, Elizabeth C. Oelsner, Edwin K. Silverman, R. Graham Barr, Timothy A. Thornton, Heather E. Wheeler, Michael H. Cho, Hae Kyung Im, Ani Manichaikul
Publikováno v:
Am J Hum Genet
While polygenic risk scores (PRSs) enable early identification of genetic risk for chronic obstructive pulmonary disease (COPD), predictive performance is limited when the discovery and target populations are not well matched. Hypothesizing that the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e12e7f14fc1976280c3cc39632d5bd13
https://doi.org/10.1016/j.ajhg.2022.03.007
https://doi.org/10.1016/j.ajhg.2022.03.007
Autor:
Hadley Stevens Smith, Clarissa E. Sanchez, Ronald Maag, Alexandria Buentello, David R. Murdock, Ginger A. Metcalf, Trevor D. Hadley, Daniel L. Riconda, Eric Boerwinkle, Xander H.T. Wehrens, Christie M. Ballantyne, Richard A. Gibbs, Amy L. McGuire, Stacey Pereira
Publikováno v:
Circulation: Genomic and Precision Medicine. 15
Background: Routine genome-wide screening for cardiovascular disease risk may inform clinical decision-making. However, little is known about whether clinicians and patients would find such testing useful or acceptable within the context of a genomic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e8b24f5620fa44850e2dc6588d29efc
https://doi.org/10.1161/circgen.121.003605
https://doi.org/10.1161/circgen.121.003605