Zobrazeno 1 - 10
of 304
pro vyhledávání: '"F Paulin"'
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
Autor:
Sairam Behera, Jonathon LeFaive, Peter Orchard, Medhat Mahmoud, Luis F. Paulin, Jesse Farek, Daniela C. Soto, Stephen C. J. Parker, Albert V. Smith, Megan Y. Dennis, Justin M. Zook, Fritz J. Sedlazeck
Publikováno v:
Genome Biology, Vol 24, Iss 1, Pp 1-21 (2023)
Abstract The current version of the human reference genome, GRCh38, contains a number of errors including 1.2 Mbp of falsely duplicated and 8.04 Mbp of collapsed regions. These errors impact the variant calling of 33 protein-coding genes, including 1
Externí odkaz:
https://doaj.org/article/ddf9214ce77c4538831718d8d9803918
Autor:
Luis F. Paulin, Muthuswamy Raveendran, R. Alan Harris, Jeffrey Rogers, Arndt von Haeseler, Fritz J. Sedlazeck
Publikováno v:
BMC Bioinformatics, Vol 24, Iss 1, Pp 1-20 (2023)
Abstract Background Recent population studies are ever growing in number of samples to investigate the diversity of a population or species. These studies reveal new polymorphism that lead to important insights into the mechanisms of evolution, but a
Externí odkaz:
https://doaj.org/article/81963c6bdbee4104820815f627bd4b58
Autor:
Fawaz Dabbaghie, Divya Kalra, Elbay Aliyev, Wouter De Coster, Kimberley Billingsley, Nicolae Sapoval, Shangzhe Zhang, Gaojianyong Wang, Kimberly Walker, Deepak Choubey, Li Chuin Chong, Alejandro R. Gener, Yilei Fu, Pavel Avdeyev, Ben Busby, Daniel Paiva Agustinho, Sairam Behera, Enrico R. Barrozo, Luis F Paulin, Ahmad Al Khleifat, Susanne P. Pfeifer, Muhammad Sohail Raza, Guangyi Chen, Rebecca Lowdon, Daniela C. Soto, David Molik, Anneri Lötter, Chunhsuan Lo, Suresh Kumar Mendem, Sina Majidian, Damaris Lattimer, Priya Lakra, Bai-Wei Lo, Chia-Sin Liew, Rupesh K. Kesharwani, Maria Jose, Jędrzej Kubica, Sree Rohit Raj Kolora, Wolfram Höps, David Morgan Henke, Michael D. Jochum, Anastasia Illarionova, Fritz J Sedlazeck, Weiyu Zhou, Todd Treangen, Philippe Sanio, Jianzhi Yang, Tiancheng Xu, Ramanandan Prabhakaran, Chi-Lam Poon, Aditi Sammi, Marie Saitou, Hiroko Ohmiya, Rajarshi Mondal, Najeeb Syed, Carolina Peralta, Nasrin Parvin, Timothy Hefferon, Medhat Mahmoud
Publikováno v:
F1000Research, Vol 11 (2022)
In October 2021, 59 scientists from 14 countries and 13 U.S. states collaborated virtually in the Third Annual Baylor College of Medicine & DNANexus Structural Variation hackathon. The goal of the hackathon was to advance research on structural varia
Externí odkaz:
https://doaj.org/article/d8c7d88e226245f696a211630add1947
Autor:
Eva Janisiw, Marilina Raices, Fabiola Balmir, Luis F. Paulin, Antoine Baudrimont, Arndt von Haeseler, Judith L. Yanowitz, Verena Jantsch, Nicola Silva
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-15 (2020)
Poly(ADP-ribose) glycohydrolase (PARG) is involved in different cellular processes including DNA repair. Here the authors reveal a role for PARG in regulating meiotic DNA double strand break induction and repair in Caenorhabditis elegans.
Externí odkaz:
https://doaj.org/article/6fbdd58c4ad94b98ba5e66e4807523fd
Autor:
Ricardo F. Paulin, Sandra H. Moura, Dora Calvo, Maria C. Soares, Marcelo D. B. Faria, Ricardo G. Fischer, Luciana. F. Bastos, Maira B. H. Moran
Publikováno v:
Disability and Rehabilitation: Assistive Technology. :1-8
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1b213d9727ee40e6ceb3169afee89cbe
https://doi.org/10.1080/17483107.2023.2166601
https://doi.org/10.1080/17483107.2023.2166601
Autor:
S. Behera, J. R. Belyeu, X. Chen, L. F. Paulin, N.Q.H. Nguyen, E. Newman, M. Mahmoud, V. K. Menon, Q. Qi, P. Joshi, S. Marcovina, M. Rossi, E. Roller, J. Han, V. Onuchic, C. L. Avery, C.M. Ballantyne, C. J. Rodriguez, R. C. Kaplan, D. M. Muzny, G. A. Metcalf, R. Gibbs, B. Yu, E. Boerwinkle, M. A. Eberle, F. J. Sedlazeck
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 accurate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::85bbf3320da8392141ddacde5072d918
https://doi.org/10.1101/2023.04.24.538128
https://doi.org/10.1101/2023.04.24.538128
Autor:
Arang Rhie, Sergey Nurk, Monika Cechova, Savannah J. Hoyt, Dylan J. Taylor, Nicolas Altemose, Paul W. Hook, Sergey Koren, Mikko Rautiainen, Ivan A. Alexandrov, Jamie Allen, Mobin Asri, Andrey V. Bzikadze, Nae-Chyun Chen, Chen-Shan Chin, Mark Diekhans, Paul Flicek, Giulio Formenti, Arkarachai Fungtammasan, Carlos Garcia Giron, Erik Garrison, Ariel Gershman, Jennifer Gerton, Patrick G.S. Grady, Andrea Guarracino, Leanne Haggerty, Reza Halabian, Nancy F. Hansen, Robert Harris, Gabrielle A. Hartley, William T. Harvey, Marina Haukness, Jakob Heinz, Thibaut Hourlier, Robert M. Hubley, Sarah E. Hunt, Stephen Hwang, Miten Jain, Rupesh K. Kesharwani, Alexandra P. Lewis, Heng Li, Glennis A. Logsdon, Julian K. Lucas, Wojciech Makalowski, Christopher Markovic, Fergal J. Martin, Ann M. Mc Cartney, Rajiv C. McCoy, Jennifer McDaniel, Brandy M. McNulty, Paul Medvedev, Alla Mikheenko, Katherine M. Munson, Terence D. Murphy, Hugh E. Olsen, Nathan D. Olson, Luis F. Paulin, David Porubsky, Tamara Potapova, Fedor Ryabov, Steven L. Salzberg, Michael E.G. Sauria, Fritz J. Sedlazeck, Kishwar Shafin, Valery A. Shepelev, Alaina Shumate, Jessica M. Storer, Likhitha Surapaneni, Angela M. Taravella Oill, Françoise Thibaud-Nissen, Winston Timp, Marta Tomaszkiewicz, Mitchell R. Vollger, Brian P. Walenz, Allison C. Watwood, Matthias H. Weissensteiner, Aaron M. Wenger, Melissa A. Wilson, Samantha Zarate, Yiming Zhu, Justin M. Zook, Evan E. Eichler, Rachel O’Neill, Michael C. Schatz, Karen H. Miga, Kateryna D. Makova, Adam M. Phillippy
The human Y chromosome has been notoriously difficult to sequence and assemble because of its complex repeat structure including long palindromes, tandem repeats, and segmental duplications. As a result, more than half of the Y chromosome is missing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d38b477c2daccca72d1302cd2225927d
https://doi.org/10.1101/2022.12.01.518724
https://doi.org/10.1101/2022.12.01.518724
Autor:
G A Ruiz, M T Carnuccio, S Makhoul, S Salzberg, A Pellegrini, G Perez Prados, E Gayet, P Gitelman, F Paulin, J A Zarate, P J Tombesi, A J Suarez, C Menendez
Publikováno v:
European Heart Journal. 43
Introduction The prevalence of cardiological sequelae in patients recovered from COVID-19 varies in different reports. This may be due to the population diversity studied or to the complementary methods on which the diagnosis was based. Objective 1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::03ba57f33b8be446bf53be2725c47ab4
https://doi.org/10.1093/eurheartj/ehac544.2492
https://doi.org/10.1093/eurheartj/ehac544.2492
Autor:
S. Behera, J. LeFaive, P. Orchard, M. Mahmoud, L. F. Paulin, J. Farek, D. C. Soto, Stephen C.J. Parker, A. V. Smith, M. Y. Dennis, J. M. Zook, F.J. Sedlazeck
The GRCh38 reference is the current standard in human genomics research and clinical applications, but includes errors across 33 protein-coding genes, including 12 with medical relevance. Current studies rely on the correctness of this reference geno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::605294c9dcd8716941e31ab3f6a5e29d
https://doi.org/10.1101/2022.07.18.500506
https://doi.org/10.1101/2022.07.18.500506