Zobrazeno 1 - 10
of 65
pro vyhledávání: '"Robert E. Handsaker"'
Autor:
Giulio Genovese, Curtis J. Mello, Po-Ru Loh, Robert E. Handsaker, Seva Kashin, Christopher W. Whelan, Lucy A. Bayer-Zwirello, Steven A. McCarroll
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-15 (2022)
Abstract Non-invasive prenatal testing (NIPT) to detect fetal aneuploidy by sequencing the cell-free DNA (cfDNA) in maternal plasma is being broadly adopted. To detect fetal aneuploidies from maternal plasma, where fetal DNA is mixed with far-larger
Externí odkaz:
https://doaj.org/article/2dcbc97c6abe499b8de027ad8226f55c
Autor:
Qiliang Ding, Matthew M. Edwards, Ning Wang, Xiang Zhu, Alexa N. Bracci, Michelle L. Hulke, Ya Hu, Yao Tong, Joyce Hsiao, Christine J. Charvet, Sulagna Ghosh, Robert E. Handsaker, Kevin Eggan, Florian T. Merkle, Jeannine Gerhardt, Dieter Egli, Andrew G. Clark, Amnon Koren
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-18 (2021)
The genetic basis of how cells replicate their DNA is not well understood. Here, the authors identify >1000 genetic elements that control human replication and reveal a complex epigenetic system that regulates replication origin activities.
Externí odkaz:
https://doaj.org/article/35d8b329749043bfb83a3cd38e9be893
Autor:
Mark J. P. Chaisson, Ashley D. Sanders, Xuefang Zhao, Ankit Malhotra, David Porubsky, Tobias Rausch, Eugene J. Gardner, Oscar L. Rodriguez, Li Guo, Ryan L. Collins, Xian Fan, Jia Wen, Robert E. Handsaker, Susan Fairley, Zev N. Kronenberg, Xiangmeng Kong, Fereydoun Hormozdiari, Dillon Lee, Aaron M. Wenger, Alex R. Hastie, Danny Antaki, Thomas Anantharaman, Peter A. Audano, Harrison Brand, Stuart Cantsilieris, Han Cao, Eliza Cerveira, Chong Chen, Xintong Chen, Chen-Shan Chin, Zechen Chong, Nelson T. Chuang, Christine C. Lambert, Deanna M. Church, Laura Clarke, Andrew Farrell, Joey Flores, Timur Galeev, David U. Gorkin, Madhusudan Gujral, Victor Guryev, William Haynes Heaton, Jonas Korlach, Sushant Kumar, Jee Young Kwon, Ernest T. Lam, Jong Eun Lee, Joyce Lee, Wan-Ping Lee, Sau Peng Lee, Shantao Li, Patrick Marks, Karine Viaud-Martinez, Sascha Meiers, Katherine M. Munson, Fabio C. P. Navarro, Bradley J. Nelson, Conor Nodzak, Amina Noor, Sofia Kyriazopoulou-Panagiotopoulou, Andy W. C. Pang, Yunjiang Qiu, Gabriel Rosanio, Mallory Ryan, Adrian Stütz, Diana C. J. Spierings, Alistair Ward, AnneMarie E. Welch, Ming Xiao, Wei Xu, Chengsheng Zhang, Qihui Zhu, Xiangqun Zheng-Bradley, Ernesto Lowy, Sergei Yakneen, Steven McCarroll, Goo Jun, Li Ding, Chong Lek Koh, Bing Ren, Paul Flicek, Ken Chen, Mark B. Gerstein, Pui-Yan Kwok, Peter M. Lansdorp, Gabor T. Marth, Jonathan Sebat, Xinghua Shi, Ali Bashir, Kai Ye, Scott E. Devine, Michael E. Talkowski, Ryan E. Mills, Tobias Marschall, Jan O. Korbel, Evan E. Eichler, Charles Lee
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-16 (2019)
Structural variants (SVs) in human genomes contribute diversity and diseases. Here, the authors use a multi-platform strategy to generate haplotype-resolved SVs for three human parent–child trios.
Externí odkaz:
https://doaj.org/article/1bf8e1b79b09479e9b177f1082c620e1
Autor:
Seyedeh M. Zekavat, Sanni Ruotsalainen, Robert E. Handsaker, Maris Alver, Jonathan Bloom, Timothy Poterba, Cotton Seed, Jason Ernst, Mark Chaffin, Jesse Engreitz, Gina M. Peloso, Ani Manichaikul, Chaojie Yang, Kathleen A. Ryan, Mao Fu, W. Craig Johnson, Michael Tsai, Matthew Budoff, Ramachandran S. Vasan, L. Adrienne Cupples, Jerome I. Rotter, Stephen S. Rich, Wendy Post, Braxton D. Mitchell, Adolfo Correa, Andres Metspalu, James G. Wilson, Veikko Salomaa, Manolis Kellis, Mark J. Daly, Benjamin M. Neale, Steven McCarroll, Ida Surakka, Tonu Esko, Andrea Ganna, Samuli Ripatti, Sekar Kathiresan, Pradeep Natarajan, NHLBI TOPMed Lipids Working Group
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-14 (2018)
Circulating lipoprotein(a) is an important risk factor for cardiovascular disease and shows variability between different ethnic groups. Here, Zekavat et al. perform whole-genome sequencing in individuals of European and African ancestries and find a
Externí odkaz:
https://doaj.org/article/dd61e81e8545472a93ddce68c769d81d
Autor:
Karol Estrada, Christopher W. Whelan, Fengmei Zhao, Paola Bronson, Robert E. Handsaker, Chao Sun, John P. Carulli, Tim Harris, Richard M. Ransohoff, Steven A. McCarroll, Aaron G. Day-Williams, Benjamin M. Greenberg, Daniel G. MacArthur
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-10 (2018)
Neuromyelitis optica (NMO) is a rare autoimmune condition characterized by inflammation and demyelination of the optic nerve and the spinal cord. Here, Estrada et al. identify NMO susceptibility variants in the MHC region and find that autoantibody-p
Externí odkaz:
https://doaj.org/article/097b3f04c35840e1a363fdf27d852415
Autor:
Seyedeh M. Zekavat, Sanni Ruotsalainen, Robert E. Handsaker, Maris Alver, Jonathan Bloom, Timothy Poterba, Cotton Seed, Jason Ernst, Mark Chaffin, Jesse Engreitz, Gina M. Peloso, Ani Manichaikul, Chaojie Yang, Kathleen A. Ryan, Mao Fu, W. Craig Johnson, Michael Tsai, Matthew Budoff, Ramachandran S. Vasan, L. Adrienne Cupples, Jerome I. Rotter, Stephen S. Rich, Wendy Post, Braxton D. Mitchell, Adolfo Correa, Andres Metspalu, James G. Wilson, Veikko Salomaa, Manolis Kellis, Mark J. Daly, Benjamin M. Neale, Steven McCarroll, Ida Surakka, Tonu Esko, Andrea Ganna, Samuli Ripatti, Sekar Kathiresan, Pradeep Natarajan, NHLBI TOPMed Lipids Working Group
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-3 (2018)
The original version of this article contained an error in the name of the author Ramachandran S. Vasan, which was incorrectly given as Vasan S. Ramachandran. This has now been corrected in both the PDF and HTML versions of the article.
Externí odkaz:
https://doaj.org/article/ed98c5cbb85047639d47b9dbdb629fac
Autor:
Seyedeh M. Zekavat, Sanni Ruotsalainen, Robert E. Handsaker, Maris Alver, Jonathan Bloom, Timothy Poterba, Cotton Seed, Jason Ernst, Mark Chaffin, Jesse Engreitz, Gina M. Peloso, Ani Manichaikul, Chaojie Yang, Kathleen A. Ryan, Mao Fu, W. Craig Johnson, Michael Tsai, Matthew Budoff, Ramachandran S. Vasan, L. Adrienne Cupples, Jerome I. Rotter, Stephen S. Rich, Wendy Post, Braxton D. Mitchell, Adolfo Correa, Andres Metspalu, James G. Wilson, Veikko Salomaa, Manolis Kellis, Mark J. Daly, Benjamin M. Neale, Steven McCarroll, Ida Surakka, Tonu Esko, Andrea Ganna, Samuli Ripatti, Sekar Kathiresan, Pradeep Natarajan, NHLBI TOPMed Lipids Working Group
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-1 (2020)
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Externí odkaz:
https://doaj.org/article/87e748518844422fb76a84381bad8336
Autor:
Joyce Hsiao, Ya Hu, Ning Wang, Amnon Koren, Andrew G. Clark, Alexa N. Bracci, Kevin Eggan, Florian T. Merkle, Michelle L Hulke, Matthew M. Edwards, Christine J. Charvet, Sulagna Ghosh, Dieter Egli, Qiliang Ding, Xiang Zhu, Robert E. Handsaker, Jeannine Gerhardt, Yao Tong
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-18 (2021)
Nature Communications
Nature Communications
Funder: National Institute of Health (NIH) DP2-GM123495
DNA replication follows a strict spatiotemporal program that intersects with chromatin structure but has a poorly understood genetic basis. To systematically identify genetic regulators of
DNA replication follows a strict spatiotemporal program that intersects with chromatin structure but has a poorly understood genetic basis. To systematically identify genetic regulators of
Autor:
Ronen E. Mukamel, Robert E. Handsaker, Maxwell A. Sherman, Alison R. Barton, Margaux L. A. Hujoel, Steven A. McCarroll, Po-Ru Loh
Many regions in the human genome vary in length among individuals due to variable numbers of tandem repeats (VNTRs). We recently showed that protein-coding VNTRs underlie some of the strongest known genetic associations with diverse phenotypes. Here,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::db42621218b15433732df322cdbeb86b
https://doi.org/10.1101/2022.10.11.22280955
https://doi.org/10.1101/2022.10.11.22280955
Autor:
Laura M Raffield, Jacob C Ulirsch, Rakhi P Naik, Samuel Lessard, Robert E Handsaker, Deepti Jain, Hyun M Kang, Nathan Pankratz, Paul L Auer, Erik L Bao, Joshua D Smith, Leslie A Lange, Ethan M Lange, Yun Li, Timothy A Thornton, Bessie A Young, Goncalo R Abecasis, Cathy C Laurie, Deborah A Nickerson, Steven A McCarroll, Adolfo Correa, James G Wilson, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Hematology & Hemostasis, Diabetes, and Structural Variation TOPMed Working Groups, Guillaume Lettre, Vijay G Sankaran, Alex P Reiner
Publikováno v:
PLoS Genetics, Vol 14, Iss 3, p e1007293 (2018)
Co-inheritance of α-thalassemia has a significant protective effect on the severity of complications of sickle cell disease (SCD), including stroke. However, little information exists on the association and interactions for the common African ancest
Externí odkaz:
https://doaj.org/article/9ca17fd0506d404caeb1d4f46a790b11